Variant report

Variant	rs4554481
Chromosome Location	chr8:19373265-19373266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19371116..19373771-chr8:19377059..19378982,3	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10088454	0.81[CHD][hapmap]
rs10089231	0.81[CHD][hapmap]
rs10101192	0.81[CHD][hapmap]
rs10105097	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10105464	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109274	0.81[CHD][hapmap]
rs10503653	0.89[JPT][hapmap]
rs10888165	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11204045	1.00[JPT][hapmap]
rs11204046	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11204047	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11204048	0.83[ASN][1000 genomes]
rs11204049	0.84[ASN][1000 genomes]
rs11204050	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11204052	0.91[ASN][1000 genomes]
rs11778525	0.97[EUR][1000 genomes]
rs11778734	0.89[JPT][hapmap]
rs11780475	0.90[ASN][1000 genomes]
rs11780905	0.97[EUR][1000 genomes]
rs11781106	0.88[EUR][1000 genomes]
rs11782907	0.96[EUR][1000 genomes]
rs11782972	0.93[EUR][1000 genomes]
rs11783263	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11784776	0.88[EUR][1000 genomes]
rs12682196	0.89[JPT][hapmap]
rs13250181	0.89[JPT][hapmap]
rs13261442	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13261732	0.89[JPT][hapmap]
rs13265751	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13266857	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13276417	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13280711	0.93[ASN][1000 genomes]
rs13282951	0.81[CHD][hapmap]
rs17128525	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17128556	0.81[CHD][hapmap]
rs17479581	0.88[EUR][1000 genomes]
rs17479749	0.91[EUR][1000 genomes]
rs17479777	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28671342	0.91[ASN][1000 genomes]
rs3185	0.89[JPT][hapmap]
rs3923920	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4073790	0.93[ASN][1000 genomes]
rs4073791	0.93[ASN][1000 genomes]
rs4244453	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4273861	0.89[ASN][1000 genomes]
rs4292704	0.89[JPT][hapmap]
rs4311666	0.89[JPT][hapmap]
rs4317590	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4319111	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4339658	0.90[ASN][1000 genomes]
rs4413788	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4436140	0.98[EUR][1000 genomes]
rs4455848	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4472532	0.80[CHD][hapmap]
rs4483172	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4484715	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4513991	0.84[ASN][1000 genomes]
rs4599829	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4614013	0.82[ASN][1000 genomes]
rs4631482	0.83[ASN][1000 genomes]
rs4631483	0.91[ASN][1000 genomes]
rs4921647	0.89[JPT][hapmap]
rs4921648	0.89[JPT][hapmap]
rs4921649	0.89[JPT][hapmap]
rs4921651	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4921653	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4921654	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4921655	0.91[ASN][1000 genomes]
rs4921656	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4921657	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4922036	0.89[JPT][hapmap]
rs4922038	0.80[ASN][1000 genomes]
rs4922039	0.80[ASN][1000 genomes]
rs4922041	0.82[ASN][1000 genomes]
rs4922042	0.88[EUR][1000 genomes]
rs4922044	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4922045	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922046	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922047	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922048	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4922049	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922050	0.92[EUR][1000 genomes]
rs55637382	0.88[EUR][1000 genomes]
rs55647560	0.97[EUR][1000 genomes]
rs55851368	0.90[EUR][1000 genomes]
rs55856414	0.88[EUR][1000 genomes]
rs55889457	0.87[EUR][1000 genomes]
rs55915417	0.97[EUR][1000 genomes]
rs56155045	0.87[EUR][1000 genomes]
rs56163568	0.88[EUR][1000 genomes]
rs57321774	0.88[EUR][1000 genomes]
rs6586837	0.89[JPT][hapmap]
rs6586839	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6586840	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6984449	0.89[JPT][hapmap]
rs6984644	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6988743	0.93[ASN][1000 genomes]
rs6991941	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6994352	0.89[JPT][hapmap]
rs6998334	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6998991	0.85[ASN][1000 genomes]
rs6999542	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7005075	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7017776	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73212568	0.88[EUR][1000 genomes]
rs73212569	0.87[EUR][1000 genomes]
rs73212582	0.91[EUR][1000 genomes]
rs73212587	0.98[EUR][1000 genomes]
rs73212588	0.98[EUR][1000 genomes]
rs73585587	0.80[ASN][1000 genomes]
rs7464357	0.83[ASN][1000 genomes]
rs7464358	0.83[ASN][1000 genomes]
rs7814548	0.81[CHD][hapmap]
rs7816777	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7818691	0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7818871	0.88[EUR][1000 genomes]
rs7828197	0.90[ASN][1000 genomes]
rs7830404	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7839041	0.89[JPT][hapmap]
rs9644628	0.93[ASN][1000 genomes]
rs9644629	0.93[ASN][1000 genomes]
rs9644630	0.90[ASN][1000 genomes]
rs9644631	1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3481470	chr8:19372957-19376837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3481471	chr8:19372957-19376837	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
4	chr8:19367000-19385000	Weak transcription	Ovary	ovary
5	chr8:19369200-19373800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:19370800-19374400	Weak transcription	A549	lung
7	chr8:19370800-19376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
9	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19371400-19374400	Enhancers	Fetal Thymus	thymus
12	chr8:19371400-19374400	Enhancers	Thymus	Thymus
13	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:19372400-19373400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr8:19372400-19373400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr8:19372400-19373600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:19372400-19373600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr8:19372400-19373600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:19372400-19373600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:19372400-19373600	Enhancers	GM12878-XiMat	blood
21	chr8:19372400-19373800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:19372400-19374000	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:19372600-19373400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:19372600-19373400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:19372600-19373400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr8:19372600-19373400	Enhancers	Colonic Mucosa	Colon
27	chr8:19372600-19373600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr8:19372600-19373600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:19372600-19373600	Enhancers	Placenta	Placenta
30	chr8:19372600-19373600	Enhancers	Right Ventricle	heart
31	chr8:19372600-19374400	Enhancers	Dnd41	blood
32	chr8:19372800-19373400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:19372800-19373400	Enhancers	Brain Hippocampus Middle	brain
34	chr8:19372800-19373400	Enhancers	Spleen	Spleen
35	chr8:19372800-19373600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:19372800-19373600	Enhancers	Fetal Muscle Leg	muscle
37	chr8:19372800-19376200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:19373000-19373400	Weak transcription	Gastric	stomach
39	chr8:19373000-19373800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:19373000-19374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:19373000-19374400	Weak transcription	Right Atrium	heart
42	chr8:19373000-19376200	Weak transcription	Left Ventricle	heart
43	chr8:19373000-19376600	Enhancers	Primary T cells from cord blood	blood
44	chr8:19373000-19376800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:19373000-19380600	Weak transcription	Lung	lung
46	chr8:19373200-19373400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:19373200-19373400	Enhancers	Pancreas	Pancrea
48	chr8:19373200-19373600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:19373200-19374600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:19373200-19376200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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