Variant report

Variant	nsv907777
Chromosome Location	chr17:18131087-18163262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1583)
CpG islands
(count:1709)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18151633-18151820	K562	blood:	n/a	n/a
2	ARID3A	chr17:18162094-18162354	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:18161363-18161726	HepG2	liver:	n/a	n/a
4	ATF2	chr17:18150479-18150820	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr17:18161161-18161640	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr17:18150440-18150737	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr17:18161286-18161837	A549	lung:	n/a	chr17:18161813-18161822
8	ATF3	chr17:18151446-18151976	A549	lung:	n/a	n/a
9	ATF3	chr17:18151493-18152082	A549	lung:	n/a	n/a
10	BACH1	chr17:18161352-18162416	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr17:18151161-18152295	A549	lung:	n/a	chr17:18152218-18152226
12	BCL3	chr17:18161159-18162589	A549	lung:	n/a	chr17:18161262-18161271 chr17:18161819-18161832
13	BCLAF1	chr17:18161782-18162354	GM12878	blood:	n/a	chr17:18161819-18161832
14	BHLHE40	chr17:18131594-18131940	K562	blood:	n/a	n/a
15	BHLHE40	chr17:18163027-18164558	K562	blood:	n/a	chr17:18163926-18163942 chr17:18163923-18163939
16	BHLHE40	chr17:18162982-18164484	HepG2	liver:	n/a	chr17:18163926-18163942 chr17:18163923-18163939
17	BHLHE40	chr17:18151640-18151975	K562	blood:	n/a	n/a
18	BHLHE40	chr17:18150141-18150733	K562	blood:	n/a	n/a
19	BHLHE40	chr17:18161331-18162510	K562	blood:	n/a	chr17:18161841-18161857 chr17:18161918-18161934 chr17:18161345-18161361 chr17:18162301-18162317
20	BHLHE40	chr17:18161786-18162504	GM12878	blood:	n/a	chr17:18161841-18161857 chr17:18161918-18161934 chr17:18162301-18162317
21	BRCA1	chr17:18151740-18151940	HepG2	liver:	n/a	n/a
22	BRCA1	chr17:18150535-18150750	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr17:18159279-18159337	GM12878	blood:	n/a	n/a
24	BRCA1	chr17:18142500-18142522	HepG2	liver:	n/a	n/a
25	BRCA1	chr17:18151598-18152162	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr17:18163000-18164781	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr17:18161158-18161295	HepG2	liver:	n/a	n/a
28	BRCA1	chr17:18162246-18162514	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr17:18161596-18162140	HepG2	liver:	n/a	n/a
30	BRCA1	chr17:18161229-18161679	Hela-S3	cervix:	n/a	n/a
31	CCNT2	chr17:18161243-18162370	K562	blood:	n/a	chr17:18161612-18161621
32	CEBPB	chr17:18154068-18154407	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr17:18153930-18154447	MCF-7	breast:	n/a	n/a
34	CEBPB	chr17:18148748-18148988	IMR90	lung:	n/a	n/a
35	CEBPB	chr17:18154058-18154388	IMR90	lung:	n/a	n/a
36	CEBPB	chr17:18154075-18154362	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr17:18154049-18154408	K562	blood:	n/a	n/a
38	CEBPB	chr17:18161175-18162234	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr17:18162935-18164041	Hela-S3	cervix:	n/a	chr17:18163829-18163837
40	CEBPB	chr17:18153952-18154450	A549	lung:	n/a	n/a
41	CEBPB	chr17:18148792-18149049	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr17:18154056-18154366	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr17:18154031-18154412	A549	lung:	n/a	n/a
44	CEBPB	chr17:18154051-18154385	HepG2	liver:	n/a	n/a
45	CEBPB	chr17:18160446-18160740	HepG2	liver:	n/a	n/a
46	CEBPD	chr17:18161808-18162257	HepG2	liver:	n/a	n/a
47	CHD1	chr17:18161207-18162346	H1-hESC	embryonic stem cell:	n/a	chr17:18161811-18161821 chr17:18161613-18161623
48	CHD1	chr17:18161268-18162430	GM12878	blood:	n/a	chr17:18161811-18161821 chr17:18161613-18161623
49	CHD2	chr17:18150422-18150772	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr17:18150476-18151038	K562	blood:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18158532-18158582	Caco-2	colon:	n/a
2	chr17:18158532-18158582	Caco-2	colon:	n/a
3	chr17:18161617-18161667	HIPEpiC	eye:	n/a
4	chr17:18131641-18131691	GM12878	blood:	n/a
5	chr17:18162315-18162365	IMR90	lung:	fetal
6	chr17:18150707-18150757	SK-N-MC	brain:	n/a
7	chr17:18139506-18139556	HEK293	kidney:	embryo
8	chr17:18151277-18151327	HL-60	blood:	n/a
9	chr17:18162242-18162292	HAEpiC	amniotic membrane:	n/a
10	chr17:18146917-18146967	CMK	blood:	n/a
11	chr17:18158532-18158582	GM12891	blood:	n/a
12	chr17:18162130-18162180	NHDF-neo	bronchial:	n/a
13	chr17:18151135-18151185	CMK	blood:	n/a
14	chr17:18162366-18162416	GM06990	blood:	n/a
15	chr17:18144934-18144984	HEEpiC	esophagus:	n/a
16	chr17:18162086-18162136	HMEC	breast:	n/a
17	chr17:18148240-18148290	NH-A	brain:	n/a
18	chr17:18161617-18161667	T-47D	breast:	n/a
19	chr17:18150954-18151004	IMR90	lung:	fetal
20	chr17:18162130-18162180	HUVEC	blood vessel:	n/a
21	chr17:18162128-18162178	HRPEpiC	eye:	n/a
22	chr17:18161617-18161667	GM19239	blood:	n/a
23	chr17:18162315-18162365	HRCEpiC	kidney:	n/a
24	chr17:18162315-18162365	SK-N-MC	brain:	n/a
25	chr17:18158532-18158582	HCPEpiC	choroid plexus:	n/a
26	chr17:18151135-18151185	ECC-1	luminal epithelium:	n/a
27	chr17:18134744-18134794	PANC-1	pancreas:	n/a
28	chr17:18163183-18163233	NT2-D1	testis:	n/a
29	chr17:18149890-18149940	HAEpiC	amniotic membrane:	n/a
30	chr17:18131641-18131691	GM12892	blood:	n/a
31	chr17:18134744-18134794	HRE	kidney:	n/a
32	chr17:18150707-18150757	GM06990	blood:	n/a
33	chr17:18162366-18162416	A549	lung:	n/a
34	chr17:18150707-18150757	Hepatocyte	liver:	n/a
35	chr17:18163183-18163233	MCF-7	breast:	n/a
36	chr17:18131641-18131691	BJ	skin:	n/a
37	chr17:18154724-18154774	HMEC	breast:	n/a
38	chr17:18144934-18144984	HRPEpiC	eye:	n/a
39	chr17:18162130-18162180	IMR90	lung:	fetal
40	chr17:18162315-18162365	A549	lung:	n/a
41	chr17:18151135-18151185	AG04450	lung:	fetal
42	chr17:18162372-18162422	T-47D	breast:	n/a
43	chr17:18162366-18162416	GM12878	blood:	n/a
44	chr17:18162366-18162416	PFSK-1	brain:	n/a
45	chr17:18144934-18144984	GM12878	blood:	n/a
46	chr17:18150501-18150551	ProgFib	skin:	n/a
47	chr17:18150954-18151004	AG10803	skin:	n/a
48	chr17:18134744-18134794	Jurkat	blood:	n/a
49	chr17:18162121-18162171	GM12878	blood:	n/a
50	chr17:18162121-18162171	HEEpiC	esophagus:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:18158849..18161472-chr17:18226331..18228845,2	MCF-7	breast:
2	chr17:18138823..18141039-chr17:18218928..18220976,2	MCF-7	breast:
3	chr17:18149918..18152295-chr17:18264840..18266898,2	MCF-7	breast:
4	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
5	chr17:18143018..18145808-chr17:18158245..18162778,4	K562	blood:
6	chr17:18160843..18161823-chr5:43121170..43122409,3	Hela-S3	cervix:
7	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
8	chr11:102187590..102188455-chr17:18145621..18146473,2	Hela-S3	cervix:
9	chr17:18149206..18150883-chr17:18160011..18162354,3	K562	blood:
10	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
11	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
12	chr17:18130971..18132517-chr17:18148096..18150971,2	MCF-7	breast:
13	chr17:18141114..18143286-chr17:18145998..18147564,2	K562	blood:
14	chr17:18139407..18141730-chr17:18142656..18144788,2	K562	blood:
15	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
16	chr17:18135795..18137603-chr17:18160135..18163013,2	MCF-7	breast:
17	chr17:18135872..18138183-chr17:18147458..18150169,3	K562	blood:
18	chr17:18130743..18132299-chr17:18139265..18141956,2	K562	blood:
19	chr17:18135343..18136871-chr17:18137313..18139125,2	MCF-7	breast:
20	chr17:18149718..18151859-chr17:18152303..18154307,2	K562	blood:
21	chr17:18136096..18138913-chr17:18143263..18146261,3	K562	blood:
22	chr17:18135343..18136871-chr17:18137313..18139125,2	MCF-7	breast:
23	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
24	chr17:18150956..18154641-chr17:18182536..18186839,4	MCF-7	breast:
25	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
26	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
27	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
28	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
29	chr17:18130743..18132299-chr17:18139265..18141956,2	K562	blood:
30	chr17:18143018..18145641-chr17:18159928..18162778,2	K562	blood:
31	chr17:18132797..18135774-chr17:18137041..18139017,2	K562	blood:
32	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
33	chr17:18129178..18131592-chr17:18137709..18139287,2	MCF-7	breast:
34	chr17:18132550..18134440-chr17:18155290..18157461,2	MCF-7	breast:
35	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
36	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
37	chr17:18136534..18138253-chr17:18140359..18142617,2	K562	blood:
38	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
39	chr17:18134113..18135746-chr17:18160892..18162821,2	MCF-7	breast:
40	chr17:18153889..18155412-chr17:18155718..18157300,2	K562	blood:
41	chr17:18151307..18151973-chr17:18224321..18225020,2	MCF-7	breast:
42	chr17:18135795..18137603-chr17:18160135..18163013,2	MCF-7	breast:
43	chr17:18141114..18143286-chr17:18145998..18147564,2	K562	blood:
44	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
45	chr17:18161764..18162492-chr19:12902269..12902787,2	Hela-S3	cervix:
46	chr17:18138107..18140775-chr17:18159304..18163792,4	MCF-7	breast:
47	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
48	chr17:18160932..18162896-chr17:18279447..18281125,2	MCF-7	breast:
49	chr17:18158589..18161919-chr17:18164225..18167330,4	K562	blood:
50	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:

No data

Variant related genes	Relation type
MIEF2	TF binding region
LLGL1	TF binding region
FLII	TF binding region
MIEF2	CpG island
LLGL1	CpG island
FLII	CpG island
ENSG00000177731	chromatin interactions
ENSG00000131899	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000091542	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000228000	chromatin interactions
ENSG00000237382	chromatin interactions
ENSG00000267350	chromatin interactions
ENSG00000176974	chromatin interactions
ENSG00000023445	chromatin interactions
ENSG00000177427	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000266677	chromatin interactions
ENSG00000187325	chromatin interactions
ENSG00000214860	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000260647	chromatin interactions

Extended variants
information (count: 1742 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:1742 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2605135	chr17:18131087-18131088	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565699760	chr17:18131102-18131103	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs60814048	chr17:18131120-18131121	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142196642	chr17:18131121-18131122	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs73980858	chr17:18131122-18131123	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs138971117	chr17:18131151-18131152	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs7405677	chr17:18131236-18131237	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142694413	chr17:18131288-18131289	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs150297371	chr17:18131307-18131308	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs114694145	chr17:18131390-18131391	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575453121	chr17:18131418-18131419	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572124383	chr17:18131421-18131422	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541012251	chr17:18131436-18131437	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185408775	chr17:18131441-18131442	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574791227	chr17:18131446-18131447	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544169396	chr17:18131456-18131457	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563906487	chr17:18131500-18131501	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373248085	chr17:18131512-18131513	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532566756	chr17:18131514-18131515	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs137961381	chr17:18131536-18131537	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538286632	chr17:18131538-18131539	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs149487642	chr17:18131562-18131563	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12939851	chr17:18131585-18131586	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143968150	chr17:18131597-18131598	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190955329	chr17:18131598-18131599	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7211573	chr17:18131613-18131614	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568215532	chr17:18131617-18131618	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560262118	chr17:18131618-18131619	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140122065	chr17:18131638-18131639	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184040424	chr17:18131641-18131642	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570648875	chr17:18131688-18131689	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112327511	chr17:18131709-18131710	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539226341	chr17:18131712-18131713	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532112706	chr17:18131782-18131783	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558663236	chr17:18131787-18131788	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75897772	chr17:18131789-18131790	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146393057	chr17:18131844-18131845	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534362348	chr17:18131848-18131849	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78738715	chr17:18131873-18131874	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139761624	chr17:18131887-18131888	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569343892	chr17:18131912-18131913	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142755832	chr17:18131936-18131937	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs151041250	chr17:18131938-18131939	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74423640	chr17:18131947-18131948	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577399836	chr17:18131983-18131984	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546396740	chr17:18131991-18131992	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139749391	chr17:18131993-18131994	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188625037	chr17:18132041-18132042	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541905474	chr17:18132073-18132074	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115937337	chr17:18132089-18132090	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18129800-18131200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:18129800-18131200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:18129800-18131200	Flanking Active TSS	Brain Substantia Nigra	brain
5	chr17:18129800-18137000	Weak transcription	Aorta	Aorta
6	chr17:18130000-18131400	Enhancers	Gastric	stomach
7	chr17:18130000-18131800	Weak transcription	Right Ventricle	heart
8	chr17:18130000-18133600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:18130000-18134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:18130000-18136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:18130000-18137000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:18130000-18137000	Weak transcription	Left Ventricle	heart
13	chr17:18130000-18137200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
16	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
18	chr17:18130200-18131200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:18130200-18131200	Enhancers	Placenta	Placenta
20	chr17:18130200-18131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:18130200-18131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:18130200-18131600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:18130200-18131800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr17:18130200-18132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr17:18130200-18132200	Weak transcription	Ovary	ovary
26	chr17:18130200-18132800	Enhancers	Fetal Muscle Trunk	muscle
27	chr17:18130200-18134600	Genic enhancers	Fetal Stomach	stomach
28	chr17:18130200-18135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:18130200-18135200	Weak transcription	Fetal Intestine Large	intestine
30	chr17:18130200-18135400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:18130200-18135400	Weak transcription	Thymus	Thymus
32	chr17:18130200-18135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:18130200-18135800	Weak transcription	Pancreas	Pancrea
34	chr17:18130200-18136000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:18130200-18136000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:18130200-18136000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr17:18130200-18136800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:18130200-18137000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:18130200-18137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:18130200-18137400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:18130200-18137400	Weak transcription	Colonic Mucosa	Colon
42	chr17:18130200-18138000	Weak transcription	HUVEC	blood vessel
43	chr17:18130200-18139600	Weak transcription	Primary B cells from cord blood	blood
44	chr17:18130200-18145600	Weak transcription	A549	lung
45	chr17:18130200-18147000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr17:18130200-18147000	Weak transcription	Liver	Liver
47	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
48	chr17:18130400-18131200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:18130400-18131400	Weak transcription	Adipose Nuclei	Adipose
50	chr17:18130400-18131600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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