Variant report

Variant	nsv872486
Chromosome Location	chr1:158979191-159090256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1930)
CpG islands
(count:978)
Chromatin interactive
region (count:28)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1930 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:159046348-159047541	K562	blood:	n/a	n/a
2	ARID3A	chr1:159038186-159038195	K562	blood:	n/a	n/a
3	ATF1	chr1:158992212-158992362	K562	blood:	n/a	n/a
4	ATF1	chr1:159057850-159058099	K562	blood:	n/a	n/a
5	ATF1	chr1:158979683-158980159	K562	blood:	n/a	n/a
6	ATF1	chr1:159049446-159049647	K562	blood:	n/a	n/a
7	ATF1	chr1:159046630-159047500	K562	blood:	n/a	n/a
8	ATF1	chr1:158985296-158985598	K562	blood:	n/a	n/a
9	ATF2	chr1:159037711-159038382	GM12878	blood:	n/a	n/a
10	ATF2	chr1:159046448-159047673	GM12878	blood:	n/a	n/a
11	ATF2	chr1:159037416-159038587	GM12878	blood:	n/a	n/a
12	ATF2	chr1:159046261-159047636	GM12878	blood:	n/a	n/a
13	ATF2	chr1:158985129-158985827	GM12878	blood:	n/a	n/a
14	ATF2	chr1:158985128-158985741	GM12878	blood:	n/a	n/a
15	ATF3	chr1:159046574-159047234	K562	blood:	n/a	n/a
16	ATF3	chr1:158985327-158985513	K562	blood:	n/a	n/a
17	BACH1	chr1:159000829-159000930	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr1:158985273-158985601	GM12878	blood:	n/a	chr1:158985456-158985467
19	BATF	chr1:159037817-159038470	GM12878	blood:	n/a	n/a
20	BATF	chr1:159046282-159047624	GM12878	blood:	n/a	n/a
21	BATF	chr1:159037795-159038400	GM12878	blood:	n/a	n/a
22	BATF	chr1:159046541-159047185	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:159046394-159047507	GM12878	blood:	n/a	n/a
24	BCL11A	chr1:159037774-159038455	GM12878	blood:	n/a	n/a
25	BCL11A	chr1:159046476-159047184	GM12878	blood:	n/a	n/a
26	BCL3	chr1:159046485-159047588	GM12878	blood:	n/a	n/a
27	BCLAF1	chr1:159037753-159038606	GM12878	blood:	n/a	n/a
28	BCLAF1	chr1:159046183-159047596	GM12878	blood:	n/a	n/a
29	BCLAF1	chr1:158979353-158980167	GM12878	blood:	n/a	chr1:158979355-158979364
30	BCLAF1	chr1:158985083-158985898	GM12878	blood:	n/a	n/a
31	BCLAF1	chr1:159046162-159047664	GM12878	blood:	n/a	n/a
32	BCLAF1	chr1:158985227-158985842	GM12878	blood:	n/a	n/a
33	BCLAF1	chr1:158979429-158980065	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:159037871-159038500	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:158979236-158980038	GM12878	blood:	n/a	n/a
36	BHLHE40	chr1:159057867-159058043	K562	blood:	n/a	n/a
37	BHLHE40	chr1:159010877-159011077	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:159046263-159047436	K562	blood:	n/a	n/a
39	BHLHE40	chr1:158985290-158985648	K562	blood:	n/a	n/a
40	BHLHE40	chr1:159047674-159048164	K562	blood:	n/a	n/a
41	BHLHE40	chr1:159046197-159047803	GM12878	blood:	n/a	n/a
42	BHLHE40	chr1:158985101-158985707	GM12878	blood:	n/a	n/a
43	BRCA1	chr1:159076713-159076786	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:159046443-159046508	GM12878	blood:	n/a	n/a
45	BRCA1	chr1:159041832-159042123	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr1:158979337-158980558	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr1:159046418-159047638	K562	blood:	n/a	n/a
48	CBX3	chr1:159046585-159047523	K562	blood:	n/a	n/a
49	CBX3	chr1:158985291-158985578	K562	blood:	n/a	n/a
50	CBX3	chr1:158985214-158985605	K562	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159043551-159043601	GM12891	blood:	n/a
2	chr1:159047163-159047213	HCT-116	colon:	n/a
3	chr1:159043551-159043601	GM12891	blood:	n/a
4	chr1:159047163-159047213	HCT-116	colon:	n/a
5	chr1:159037843-159037893	GM12878	blood:	n/a
6	chr1:158979647-158979697	PFSK-1	brain:	n/a
7	chr1:159061369-159061419	AoSMC	blood vessel:	n/a
8	chr1:159047034-159047084	HRCEpiC	kidney:	n/a
9	chr1:159046451-159046501	SK-N-MC	brain:	n/a
10	chr1:159047034-159047084	SK-N-SH_RA	brain:	n/a
11	chr1:159047163-159047213	HNPCEpiC	eye:	n/a
12	chr1:159001170-159001220	AG10803	skin:	n/a
13	chr1:159046773-159046823	ECC-1	luminal epithelium:	n/a
14	chr1:159061369-159061419	NB4	blood:	n/a
15	chr1:159037843-159037893	HRCEpiC	kidney:	n/a
16	chr1:159037843-159037893	HRE	kidney:	n/a
17	chr1:159046937-159046987	SAEC	small airway:	n/a
18	chr1:158979810-158979860	HRE	kidney:	n/a
19	chr1:159061369-159061419	AG04449	skin:	fetal
20	chr1:159061369-159061419	AG09309	skin:	n/a
21	chr1:159047163-159047213	AG04449	skin:	fetal
22	chr1:158979647-158979697	HRE	kidney:	n/a
23	chr1:159047163-159047213	HCPEpiC	choroid plexus:	n/a
24	chr1:159046973-159047023	NH-A	brain:	n/a
25	chr1:158984321-158984371	NB4	blood:	n/a
26	chr1:158979538-158979588	Caco-2	colon:	n/a
27	chr1:158979647-158979697	HAEpiC	amniotic membrane:	n/a
28	chr1:159061369-159061419	H1-hESC	embryonic stem cell:	embryo
29	chr1:158979538-158979588	HAEpiC	amniotic membrane:	n/a
30	chr1:159001170-159001220	ECC-1	luminal epithelium:	n/a
31	chr1:158979647-158979697	SAEC	small airway:	n/a
32	chr1:159046391-159046441	HCT-116	colon:	n/a
33	chr1:159047034-159047084	AG10803	skin:	n/a
34	chr1:159046937-159046987	U87	brain:	n/a
35	chr1:159037843-159037893	GM19239	blood:	n/a
36	chr1:159047163-159047213	HIPEpiC	eye:	n/a
37	chr1:158979647-158979697	NT2-D1	testis:	n/a
38	chr1:159046451-159046501	AG04449	skin:	fetal
39	chr1:159047034-159047084	AoSMC	blood vessel:	n/a
40	chr1:159047163-159047213	SK-N-SH	brain:	n/a
41	chr1:159037843-159037893	HIPEpiC	eye:	n/a
42	chr1:158979647-158979697	HCF	heart:	n/a
43	chr1:158979647-158979697	BJ	skin:	n/a
44	chr1:158979538-158979588	SK-N-SH_RA	brain:	n/a
45	chr1:159046773-159046823	AG04450	lung:	fetal
46	chr1:158979810-158979860	HAEpiC	amniotic membrane:	n/a
47	chr1:159037843-159037893	SK-N-SH	brain:	n/a
48	chr1:159046973-159047023	ProgFib	skin:	n/a
49	chr1:159061369-159061419	HRCEpiC	kidney:	n/a
50	chr1:159046773-159046823	SK-N-MC	brain:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:159068678..159071672-chr1:159072743..159076622,3	K562	blood:
2	chr1:159046656..159048509-chr1:159082472..159085095,2	K562	blood:
3	chr1:158968169..158968975-chr1:159041872..159042414,2	K562	blood:
4	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:
5	chr1:159045143..159047906-chr1:159048588..159051192,2	K562	blood:
6	chr1:159042502..159045008-chr1:159045227..159046853,2	K562	blood:
7	chr1:159048113..159051506-chr1:159051695..159053675,3	K562	blood:
8	chr1:159021267..159022786-chr1:159028337..159030656,2	K562	blood:
9	chr1:159050428..159052109-chr1:159056538..159058427,2	K562	blood:
10	chr1:159062221..159063748-chr1:159065497..159068342,2	K562	blood:
11	chr1:158979699..158980284-chr16:31191231..31192125,2	Hela-S3	cervix:
12	chr1:159039043..159041964-chr1:159044842..159048039,3	K562	blood:
13	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:
14	chr1:159042502..159045008-chr1:159045227..159046853,2	K562	blood:
15	chr1:158980102..158980980-chr7:91467247..91467748,2	Hela-S3	cervix:
16	chr1:159068678..159071672-chr1:159072743..159078068,4	K562	blood:
17	chr1:159043142..159045016-chr1:159045353..159047228,3	K562	blood:
18	chr1:159068678..159071672-chr1:159072743..159078068,4	K562	blood:
19	chr1:159052760..159055391-chr1:159092574..159094958,2	K562	blood:
20	chr1:159045007..159047790-chr1:159051781..159054350,3	K562	blood:
21	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:
22	chr1:159062221..159063748-chr1:159065497..159068342,2	K562	blood:
23	chr1:159057678..159060564-chr1:159061806..159064671,2	K562	blood:
24	chr1:159068678..159071672-chr1:159072743..159076622,3	K562	blood:
25	chr1:159048113..159051506-chr1:159051695..159053675,3	K562	blood:
26	chr1:159057678..159060564-chr1:159061806..159064671,2	K562	blood:
27	chr1:159045437..159047935-chr1:159056022..159057740,2	K562	blood:
28	chr1:159036460..159038313-chr1:159045367..159047993,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIM2-2	chr1:159027391-159028153	NONHSAT006994
2	lnc-AIM2-2	chr1:159028176-159029238	NONHSAT006994
3	lnc-OR10J3-2	chr1:159050923-159051585	NONHSAT006996
4	lnc-AIM2-2	chr1:159026258-159026373	NONHSAT006994
5	lnc-IFI16-1	chr1:159066801-159067405	predAs_ge08_CD244_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	IFI16	hsa-miR-124-3p	chr1:159024725-159024744

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000265589	TF binding region
RAD1P2	TF binding region
IFI16	TF binding region
AIM2	CpG island
ENSG00000265589	CpG island
RAD1P2	CpG island
IFI16	CpG island
ENSG00000089280	chromatin interactions
ENSG00000163565	chromatin interactions
ENSG00000163554	chromatin interactions
ENSG00000163568	chromatin interactions
ENSG00000233473	chromatin interactions
ENSG00000265589	chromatin interactions

Extended variants
information (count: 4121 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:4121 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1417806	chr1:158979191-158979192	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs552924360	chr1:158979198-158979199	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184249327	chr1:158979216-158979217	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187524244	chr1:158979263-158979264	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145153763	chr1:158979266-158979267	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs193241958	chr1:158979287-158979288	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576193530	chr1:158979295-158979296	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577148862	chr1:158979318-158979319	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546377455	chr1:158979392-158979393	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs17550717	chr1:158979394-158979395	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544100596	chr1:158979410-158979411	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571512116	chr1:158979417-158979418	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558935450	chr1:158979418-158979419	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559738986	chr1:158979430-158979431	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1417805	chr1:158979458-158979459	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574269720	chr1:158979481-158979482	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144789078	chr1:158979517-158979518	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114359488	chr1:158979525-158979526	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7511661	chr1:158979528-158979529	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576082068	chr1:158979571-158979572	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7535019	chr1:158979572-158979573	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7546461	chr1:158979582-158979583	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147932948	chr1:158979585-158979586	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139068416	chr1:158979586-158979587	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7535027	chr1:158979589-158979590	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528149125	chr1:158979621-158979622	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371137081	chr1:158979653-158979654	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7537287	chr1:158979679-158979680	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185398668	chr1:158979680-158979681	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs541749194	chr1:158979690-158979691	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376000404	chr1:158979732-158979733	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs139803989	chr1:158979775-158979776	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs530571785	chr1:158979796-158979797	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547984115	chr1:158979854-158979855	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs80052292	chr1:158979874-158979875	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555109036	chr1:158979887-158979888	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs190643135	chr1:158979915-158979916	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs2276404	chr1:158979950-158979951	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs12093304	chr1:158979990-158979991	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs149029685	chr1:158980047-158980048	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538361240	chr1:158980081-158980082	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556593554	chr1:158980086-158980087	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs116119083	chr1:158980098-158980099	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs144621639	chr1:158980104-158980105	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555915440	chr1:158980153-158980154	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs541334626	chr1:158980190-158980191	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146748131	chr1:158980213-158980214	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs856061	chr1:158980226-158980227	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140417532	chr1:158980232-158980233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs578042036	chr1:158980269-158980270	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2467 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158970200-158979200	Weak transcription	Aorta	Aorta
2	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
3	chr1:158971800-158979800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:158972000-158979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:158975000-158979800	Weak transcription	Lung	lung
6	chr1:158975400-158979200	Weak transcription	Liver	Liver
7	chr1:158975400-158979200	Weak transcription	Right Atrium	heart
8	chr1:158975800-158979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:158976000-158979200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:158976000-158979200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:158976000-158979400	Weak transcription	Left Ventricle	heart
12	chr1:158976000-158979400	Weak transcription	Ovary	ovary
13	chr1:158976000-158979600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
15	chr1:158976000-159000800	Weak transcription	Gastric	stomach
16	chr1:158976400-158979400	Weak transcription	Fetal Kidney	kidney
17	chr1:158976400-158979400	Weak transcription	Placenta	Placenta
18	chr1:158976400-158979800	Weak transcription	Stomach Mucosa	stomach
19	chr1:158977200-158979200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:158977200-158979600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:158977600-158979400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:158977600-158979600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:158977800-158979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:158978200-158979200	Enhancers	NHLF	lung
27	chr1:158978200-158979400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:158978200-158979400	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:158978200-158979400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:158978200-158979400	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:158978200-158979600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:158978200-158979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:158978200-158980400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:158978400-158979200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:158978400-158979200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:158978400-158979200	Enhancers	Brain Anterior Caudate	brain
38	chr1:158978400-158979200	Enhancers	Fetal Intestine Small	intestine
39	chr1:158978400-158979200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:158978400-158979200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:158978400-158979200	Enhancers	NHEK	skin
42	chr1:158978400-158979200	Enhancers	Osteobl	bone
43	chr1:158978400-158979400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:158978400-158979400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:158978400-158979400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:158978400-158979400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:158978400-158979400	Enhancers	Fetal Intestine Large	intestine
48	chr1:158978400-158979400	Enhancers	Fetal Muscle Leg	muscle
49	chr1:158978400-158979400	Flanking Active TSS	Dnd41	blood
50	chr1:158978400-158979400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links