Variant report

Variant	rs7776130
Chromosome Location	chr6:106990551-106990552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:106990506-106990834	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AIM1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6911770	1.00[YRI][hapmap]
rs6913393	1.00[YRI][hapmap]
rs6920562	1.00[YRI][hapmap]
rs7741144	1.00[YRI][hapmap]
rs7743579	0.90[YRI][hapmap]
rs7770833	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1017419	chr6:106984669-106997000	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
3	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
4	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:106976600-106991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:106978800-106993800	Weak transcription	NHLF	lung
8	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
9	chr6:106981600-106995600	Weak transcription	Colonic Mucosa	Colon
10	chr6:106982400-107000800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:106982800-106993200	Weak transcription	HUVEC	blood vessel
12	chr6:106985000-106993800	Weak transcription	NH-A	brain
13	chr6:106985800-107019200	Weak transcription	Aorta	Aorta
14	chr6:106986200-106992000	Strong transcription	Fetal Intestine Small	intestine
15	chr6:106986200-106993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:106986200-106994000	Weak transcription	Stomach Mucosa	stomach
17	chr6:106986400-106993000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:106986400-106994600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:106986400-106995000	Weak transcription	Thymus	Thymus
20	chr6:106986800-106991200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:106986800-106991200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:106986800-106992000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:106986800-106994400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:106987000-106992200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:106987000-106993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:106987400-106992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:106987400-106993800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:106987600-106993400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:106987800-106993800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:106988200-106990600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:106988200-106993200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:106988200-106993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:106988200-106993800	Weak transcription	Esophagus	oesophagus
34	chr6:106988200-107001400	Weak transcription	Lung	lung
35	chr6:106988400-106994000	Strong transcription	GM12878-XiMat	blood
36	chr6:106988400-106995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:106988600-106991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:106988600-106991200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:106988600-106991200	Weak transcription	NHDF-Ad	bronchial
40	chr6:106988600-106991800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:106988600-106992600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:106988600-106993200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:106988800-106994600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:106989000-106993200	Strong transcription	HMEC	breast
45	chr6:106989000-106994000	Strong transcription	Fetal Intestine Large	intestine
46	chr6:106989200-106993200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:106989200-106994000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:106989200-106994600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:106989400-106991400	Weak transcription	Liver	Liver
50	chr6:106989400-106992400	Strong transcription	Monocytes-CD14+_RO01746	blood

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