Variant report

Variant	rs7636495
Chromosome Location	chr3:196367936-196367937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196365267..196368079-chr3:196439058..196441272,2	K562	blood:
2	chr3:196361986..196364236-chr3:196367780..196369849,2	MCF-7	breast:
3	chr3:196357652..196362055-chr3:196366972..196372396,7	MCF-7	breast:
4	chr3:196366955..196369302-chr3:196387921..196390503,2	K562	blood:
5	chr3:196367223..196368750-chr3:196384180..196387081,2	K562	blood:
6	chr3:196365233..196368079-chr3:196439058..196440844,2	K562	blood:

Variant related genes	Relation type
ENSG00000163964	Chromatin interaction
ENSG00000232065	Chromatin interaction
ENSG00000174007	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11185551	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11719122	0.98[ASN][1000 genomes]
rs34214036	0.98[ASN][1000 genomes]
rs4605582	1.00[CHB][hapmap]
rs7635042	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs7636493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196365000-196370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:196365400-196369800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr3:196365600-196369000	Active TSS	Rectal Smooth Muscle	rectum
4	chr3:196365600-196369600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:196365600-196370000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:196365800-196368800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:196366000-196369000	Active TSS	Right Atrium	heart
8	chr3:196366200-196368000	Active TSS	Right Ventricle	heart
9	chr3:196366400-196368000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:196366400-196368000	Bivalent/Poised TSS	Fetal Stomach	stomach
11	chr3:196366800-196368000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr3:196366800-196368000	Flanking Active TSS	K562	blood
13	chr3:196366800-196368600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:196366800-196368600	Flanking Active TSS	Fetal Thymus	thymus
15	chr3:196366800-196368600	Active TSS	Lung	lung
16	chr3:196366800-196369000	Flanking Active TSS	Thymus	Thymus
17	chr3:196366800-196369200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr3:196366800-196369800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr3:196366800-196370000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr3:196366800-196370000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:196366800-196371200	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr3:196367000-196368000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr3:196367000-196368000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:196367000-196368000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr3:196367000-196368000	Active TSS	Esophagus	oesophagus
26	chr3:196367000-196369400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:196367000-196369600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:196367000-196370400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:196367000-196372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:196367000-196372600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr3:196367200-196368000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr3:196367200-196368000	Active TSS	Brain Hippocampus Middle	brain
33	chr3:196367200-196369000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
34	chr3:196367200-196369400	Active TSS	Fetal Muscle Leg	muscle
35	chr3:196367200-196369400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr3:196367200-196369600	Active TSS	Placenta	Placenta
37	chr3:196367200-196393200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:196367400-196368400	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr3:196367400-196368600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr3:196367400-196368600	Weak transcription	NHDF-Ad	bronchial
41	chr3:196367400-196368800	Enhancers	Brain Angular Gyrus	brain
42	chr3:196367400-196372400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:196367400-196372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:196367400-196373000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:196367400-196373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:196367600-196368600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:196367600-196368800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:196367600-196369600	Active TSS	Adipose Nuclei	Adipose
49	chr3:196367600-196370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:196367600-196376800	Weak transcription	Colon Smooth Muscle	Colon

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