Variant report

Variant	nsv543657
Chromosome Location	chr18:12988947-13039941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1352)
CpG islands
(count:674)
Chromatin interactive
region (count:90)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12990733-12991417	K562	blood:	n/a	n/a
2	ARID3A	chr18:12996484-12996519	K562	blood:	n/a	n/a
3	ARID3A	chr18:13003481-13003658	K562	blood:	n/a	n/a
4	ARID3A	chr18:12991400-12991964	HepG2	liver:	n/a	n/a
5	ATF2	chr18:12991217-12991810	GM12878	blood:	n/a	n/a
6	ATF2	chr18:13003377-13003727	GM12878	blood:	n/a	n/a
7	ATF2	chr18:13019282-13019639	GM12878	blood:	n/a	n/a
8	ATF2	chr18:12989982-12990572	GM12878	blood:	n/a	n/a
9	ATF2	chr18:12991165-12991925	GM12878	blood:	n/a	n/a
10	ATF2	chr18:13019184-13019763	GM12878	blood:	n/a	n/a
11	ATF3	chr18:12991002-12991497	GM12878	blood:	n/a	chr18:12991148-12991157
12	ATF3	chr18:12991153-12991398	HepG2	liver:	n/a	n/a
13	ATF3	chr18:12991089-12991375	GM12878	blood:	n/a	chr18:12991148-12991157
14	ATF3	chr18:12990992-12991520	K562	blood:	n/a	chr18:12991148-12991157
15	BACH1	chr18:12990902-12991195	K562	blood:	n/a	n/a
16	BACH1	chr18:13003501-13003744	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr18:12990477-12991704	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr18:13019247-13019660	GM12878	blood:	n/a	chr18:13019584-13019594
19	BATF	chr18:13019275-13019690	GM12878	blood:	n/a	chr18:13019584-13019594
20	BATF	chr18:12998717-12999033	GM12878	blood:	n/a	n/a
21	BATF	chr18:12998640-12999059	GM12878	blood:	n/a	n/a
22	BATF	chr18:12990100-12990423	GM12878	blood:	n/a	n/a
23	BATF	chr18:13003576-13003811	GM12878	blood:	n/a	n/a
24	BCL11A	chr18:13019269-13019686	GM12878	blood:	n/a	n/a
25	BCL11A	chr18:12998735-12999012	GM12878	blood:	n/a	n/a
26	BCL3	chr18:12990893-12991559	GM12878	blood:	n/a	n/a
27	BCL3	chr18:12990062-12990471	GM12878	blood:	n/a	n/a
28	BCLAF1	chr18:12990842-12992032	GM12878	blood:	n/a	n/a
29	BCLAF1	chr18:12990011-12990711	GM12878	blood:	n/a	n/a
30	BCLAF1	chr18:12998634-12999077	GM12878	blood:	n/a	n/a
31	BCLAF1	chr18:12991282-12991822	GM12878	blood:	n/a	n/a
32	BCLAF1	chr18:12990039-12990532	GM12878	blood:	n/a	n/a
33	BHLHE40	chr18:13003574-13003692	K562	blood:	n/a	n/a
34	BHLHE40	chr18:13003517-13003581	GM12878	blood:	n/a	n/a
35	BHLHE40	chr18:12995798-12996691	GM12878	blood:	n/a	n/a
36	BHLHE40	chr18:12990080-12990496	GM12878	blood:	n/a	n/a
37	BHLHE40	chr18:12996146-12996458	HepG2	liver:	n/a	n/a
38	BHLHE40	chr18:12990988-12992040	GM12878	blood:	n/a	chr18:12991326-12991342 chr18:12991320-12991336
39	BHLHE40	chr18:12990768-12991944	K562	blood:	n/a	chr18:12991326-12991342 chr18:12991320-12991336
40	BHLHE40	chr18:12991118-12991918	HepG2	liver:	n/a	chr18:12991326-12991342 chr18:12991320-12991336
41	BHLHE40	chr18:12996966-12997065	K562	blood:	n/a	n/a
42	BHLHE40	chr18:12996124-12996476	K562	blood:	n/a	n/a
43	BHLHE40	chr18:12998719-12999050	GM12878	blood:	n/a	n/a
44	BRCA1	chr18:12990794-12991570	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr18:13003503-13003847	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr18:12990819-12991118	GM12878	blood:	n/a	n/a
47	BRCA1	chr18:12991355-12991725	HepG2	liver:	n/a	n/a
48	CBX3	chr18:12995357-12995871	K562	blood:	n/a	n/a
49	CBX3	chr18:12995377-12995892	K562	blood:	n/a	n/a
50	CBX3	chr18:12991103-12991898	K562	blood:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12991346-12991396	HRPEpiC	eye:	n/a
2	chr18:12991062-12991112	HRE	kidney:	n/a
3	chr18:12991352-12991402	HL-60	blood:	n/a
4	chr18:12991346-12991396	HRPEpiC	eye:	n/a
5	chr18:12991062-12991112	HRE	kidney:	n/a
6	chr18:12991352-12991402	HL-60	blood:	n/a
7	chr18:13026680-13026730	LNCaP	prostate:	n/a
8	chr18:12995358-12995408	AG09309	skin:	n/a
9	chr18:12991827-12991877	HEEpiC	esophagus:	n/a
10	chr18:12995358-12995408	ECC-1	luminal epithelium:	n/a
11	chr18:12991827-12991877	ProgFib	skin:	n/a
12	chr18:13026680-13026730	HNPCEpiC	eye:	n/a
13	chr18:12991013-12991063	NHBE	bronchial:	n/a
14	chr18:12991352-12991402	ECC-1	luminal epithelium:	n/a
15	chr18:12995358-12995408	SKMC	muscle:	n/a
16	chr18:12991013-12991063	ovcar-3	ovarian:	n/a
17	chr18:12991623-12991673	BE2_C	brain:	n/a
18	chr18:12991350-12991400	IMR90	lung:	fetal
19	chr18:12991352-12991402	AG09319	gingival:	n/a
20	chr18:12991352-12991402	Hela-S3	cervix:	n/a
21	chr18:12991346-12991396	T-47D	breast:	n/a
22	chr18:12991623-12991673	AG09319	gingival:	n/a
23	chr18:12991346-12991396	MCF10A-Er-Src	breast:	n/a
24	chr18:12991350-12991400	Jurkat	blood:	n/a
25	chr18:12991151-12991201	H1-hESC	embryonic stem cell:	embryo
26	chr18:12991623-12991673	HRE	kidney:	n/a
27	chr18:12991151-12991201	U87	brain:	n/a
28	chr18:12995358-12995408	SK-N-SH_RA	brain:	n/a
29	chr18:12991352-12991402	HCPEpiC	choroid plexus:	n/a
30	chr18:12991346-12991396	BJ	skin:	n/a
31	chr18:12991352-12991402	HRE	kidney:	n/a
32	chr18:12991013-12991063	MCF10A-Er-Src	breast:	n/a
33	chr18:12991164-12991214	NHBE	bronchial:	n/a
34	chr18:12991164-12991214	IMR90	lung:	fetal
35	chr18:12991151-12991201	HL-60	blood:	n/a
36	chr18:12991352-12991402	A549	lung:	n/a
37	chr18:12991151-12991201	HIPEpiC	eye:	n/a
38	chr18:12991062-12991112	NH-A	brain:	n/a
39	chr18:12991346-12991396	HAEpiC	amniotic membrane:	n/a
40	chr18:12991827-12991877	H1-hESC	embryonic stem cell:	embryo
41	chr18:12995358-12995408	HRE	kidney:	n/a
42	chr18:12991827-12991877	HNPCEpiC	eye:	n/a
43	chr18:12991352-12991402	T-47D	breast:	n/a
44	chr18:12991013-12991063	NH-A	brain:	n/a
45	chr18:12991352-12991402	HCT-116	colon:	n/a
46	chr18:12991350-12991400	HPAEpiC	pulmonary alveolar:	n/a
47	chr18:12991623-12991673	HPAEpiC	pulmonary alveolar:	n/a
48	chr18:12991062-12991112	IMR90	lung:	fetal
49	chr18:12991350-12991400	HRE	kidney:	n/a
50	chr18:12995358-12995408	AG10803	skin:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:12991467..12993717-chr18:13539738..13542100,2	MCF-7	breast:
2	chr17:61523171..61523824-chr18:12990700..12991581,2	Hela-S3	cervix:
3	chr18:13031424..13033227-chr18:13033629..13036334,2	K562	blood:
4	chr18:13012462..13013994-chr18:13014069..13016844,2	MCF-7	breast:
5	chr18:13018257..13020570-chr18:13021746..13023848,2	K562	blood:
6	chr18:12536634..12538194-chr18:12991456..12994159,2	K562	blood:
7	chr18:13011595..13014451-chr18:13022338..13025597,3	K562	blood:
8	chr1:26606197..26607867-chr18:12991163..12992861,2	MCF-7	breast:
9	chr18:12990233..12992753-chr18:13003201..13005792,2	MCF-7	breast:
10	chr18:12991401..12992947-chr18:13092444..13094824,2	K562	blood:
11	chr18:12988791..12990408-chr18:13028721..13030724,2	K562	blood:
12	chr18:13026928..13029463-chr18:13032785..13034705,2	K562	blood:
13	chr18:12990627..12994399-chr18:13026748..13030425,3	K562	blood:
14	chr18:13017521..13020570-chr18:13021746..13023868,3	K562	blood:
15	chr18:12988481..12994468-chr18:12998354..13003992,8	MCF-7	breast:
16	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
17	chr18:13032734..13035826-chr18:13036723..13041080,5	K562	blood:
18	chr18:13034897..13036714-chr18:13150744..13153648,2	K562	blood:
19	chr18:13005973..13010293-chr18:13010945..13016476,6	K562	blood:
20	chr18:12991038..12991997-chr6:99872882..99873671,2	Hela-S3	cervix:
21	chr18:12990681..12991375-chr2:216177043..216177877,2	Hela-S3	cervix:
22	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
23	chr18:13030155..13031779-chr18:13051072..13053122,2	K562	blood:
24	chr18:13012462..13013994-chr18:13014069..13016844,2	MCF-7	breast:
25	chr18:13026928..13029463-chr18:13032785..13034705,2	K562	blood:
26	chr18:12988713..12992401-chr18:13031948..13034637,3	MCF-7	breast:
27	chr12:49075549..49076162-chr18:12990654..12991156,2	Hela-S3	cervix:
28	chr18:12990712..12991709-chr3:9438699..9439422,2	NB4	blood:
29	chr18:12995796..12999639-chr18:13011054..13013784,3	K562	blood:
30	chr18:12990875..12991863-chr22:31884946..31885786,2	Hela-S3	cervix:
31	chr18:13011595..13014451-chr18:13022338..13025597,3	K562	blood:
32	chr18:12990458..12991873-chr9:91932802..91933783,3	Hela-S3	cervix:
33	chr18:12996926..12999710-chr18:13000576..13003531,2	K562	blood:
34	chr18:12991026..12991868-chr4:119199244..119200267,3	Hela-S3	cervix:
35	chr18:13017737..13019415-chr18:13020014..13022473,2	MCF-7	breast:
36	chr18:13032939..13034812-chr18:13035452..13038047,2	MCF-7	breast:
37	chr18:12996489..12998450-chr18:12998497..13000010,2	K562	blood:
38	chr18:13031424..13033227-chr18:13033629..13036334,2	K562	blood:
39	chr18:12988720..12991323-chr18:13032484..13035144,2	K562	blood:
40	chr17:17740122..17740700-chr18:12990991..12991588,2	Hela-S3	cervix:
41	chr18:12990627..12994399-chr18:13026748..13030425,3	K562	blood:
42	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
43	chr18:12948045..12950720-chr18:13000084..13003175,3	K562	blood:
44	chr18:13009187..13011605-chr18:13016095..13017651,2	MCF-7	breast:
45	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:
46	chr18:12996489..12998450-chr18:12998497..13000010,2	K562	blood:
47	chr18:12946507..12948439-chr18:13003559..13005990,2	K562	blood:
48	chr18:12990161..12992995-chr18:13012731..13015315,3	K562	blood:
49	chr18:12989490..12992525-chr18:12992706..12997077,5	MCF-7	breast:
50	chr18:13032734..13035826-chr18:13036723..13041080,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN2-6	chr18:12991071-12991172	ENSG00000266969.1

No data

Variant related genes	Relation type
ENSG00000266969	TF binding region
CEP192	TF binding region
ENSG00000266969	CpG island
CEP192	CpG island
ENSG00000085415	chromatin interactions
ENSG00000270021	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000101639	chromatin interactions
ENSG00000139620	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000266969	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000156642	chromatin interactions
ENSG00000099330	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000142669	chromatin interactions
ENSG00000132424	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000138363	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000269893	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000267032	chromatin interactions
ENSG00000008283	chromatin interactions
ENSG00000113648	chromatin interactions
ENSG00000072310	chromatin interactions

Extended variants
information (count: 1891 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1891 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528356048	chr18:12988955-12988956	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs76253418	chr18:12989027-12989028	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188755180	chr18:12989040-12989041	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs138429947	chr18:12989046-12989047	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535449006	chr18:12989099-12989100	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs79995238	chr18:12989132-12989133	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs34236948	chr18:12989151-12989152	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs67580703	chr18:12989152-12989153	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs72528948	chr18:12989153-12989154	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs397711027	chr18:12989154-12989155	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs372540682	chr18:12989155-12989156	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs376281696	chr18:12989156-12989157	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369197093	chr18:12989158-12989159	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs568642691	chr18:12989188-12989189	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs11662567	chr18:12989279-12989280	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371391422	chr18:12989306-12989307	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs558682068	chr18:12989308-12989309	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs181787058	chr18:12989331-12989332	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs370231651	chr18:12989354-12989355	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs143904687	chr18:12989357-12989358	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs534955666	chr18:12989365-12989366	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374809698	chr18:12989391-12989392	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs553643459	chr18:12989478-12989479	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147253494	chr18:12989503-12989504	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs542236807	chr18:12989586-12989587	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs140805548	chr18:12989638-12989639	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs377173286	chr18:12989667-12989668	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs74954932	chr18:12989689-12989690	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs17659689	chr18:12989722-12989723	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs546329475	chr18:12989780-12989781	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs573336764	chr18:12989789-12989790	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs187298415	chr18:12989790-12989791	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs190494260	chr18:12989791-12989792	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540124777	chr18:12989802-12989803	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562050612	chr18:12989816-12989817	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs180875874	chr18:12989828-12989829	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs142256459	chr18:12989873-12989874	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs575380876	chr18:12989946-12989947	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs568518880	chr18:12989951-12989952	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs144676602	chr18:12989992-12989993	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs145709812	chr18:12990023-12990024	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185466392	chr18:12990029-12990030	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs551082126	chr18:12990059-12990060	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs189875009	chr18:12990100-12990101	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs182495665	chr18:12990148-12990149	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs535255076	chr18:12990199-12990200	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs185776015	chr18:12990209-12990210	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs145993764	chr18:12990222-12990223	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs568781374	chr18:12990224-12990225	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs535473092	chr18:12990246-12990247	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:12949200-12989400	Weak transcription	Psoas Muscle	Psoas
3	chr18:12950000-12990200	Weak transcription	Fetal Brain Male	brain
4	chr18:12951400-12990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:12959000-12990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:12972800-12990000	Weak transcription	Brain Substantia Nigra	brain
7	chr18:12973200-12990200	Weak transcription	Small Intestine	intestine
8	chr18:12974200-12990200	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:12975800-12990200	Weak transcription	Right Ventricle	heart
10	chr18:12976000-12990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:12976400-12990000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:12976400-12990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr18:12976400-12990000	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:12976400-12990000	Weak transcription	Stomach Mucosa	stomach
15	chr18:12976400-12990200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12976400-12990200	Weak transcription	Brain Angular Gyrus	brain
17	chr18:12976400-12990200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:12976400-12990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:12976400-12990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:12976600-12990000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr18:12976600-12990000	Weak transcription	Fetal Heart	heart
22	chr18:12976600-12990200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:12976600-12990200	Weak transcription	Brain Anterior Caudate	brain
24	chr18:12976600-12990200	Weak transcription	Esophagus	oesophagus
25	chr18:12976600-12990200	Weak transcription	Spleen	Spleen
26	chr18:12976600-12990400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:12976600-12990800	Weak transcription	Aorta	Aorta
28	chr18:12976800-12990200	Weak transcription	Fetal Lung	lung
29	chr18:12977400-12990600	Weak transcription	HSMMtube	muscle
30	chr18:12978600-12989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:12978600-12990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:12978600-12990200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:12978600-12990200	Weak transcription	Pancreas	Pancrea
34	chr18:12978800-12990000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:12978800-12990000	Weak transcription	NHLF	lung
36	chr18:12979000-12989400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:12979000-12990000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:12979000-12990000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr18:12982200-12990200	Weak transcription	Fetal Intestine Small	intestine
40	chr18:12983200-12990000	Weak transcription	Thymus	Thymus
41	chr18:12983200-12990200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr18:12983200-12990200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:12983400-12990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:12983400-12990200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr18:12983600-12989400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:12983600-12990200	Weak transcription	Gastric	stomach
47	chr18:12983600-12990200	Weak transcription	Lung	lung
48	chr18:12983600-12990400	Weak transcription	Fetal Brain Female	brain
49	chr18:12983600-12990400	Weak transcription	Fetal Stomach	stomach
50	chr18:12983800-12990000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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