Variant report

Variant	rs7043171
Chromosome Location	chr9:73001318-73001319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72999288..73001948-chr9:73033254..73035882,2	K562	blood:
2	chr9:73000797..73002520-chr9:73026593..73028395,2	K562	blood:
3	chr9:72999364..73002925-chr9:73026593..73030513,4	K562	blood:

Variant related genes	Relation type
ENSG00000119138	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780924	1.00[CHB][hapmap]
rs10868800	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1112937	1.00[CHB][hapmap]
rs11142364	1.00[CHB][hapmap]
rs11142372	1.00[CHB][hapmap]
rs11142377	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs11142379	1.00[CHB][hapmap]
rs11521805	1.00[CHB][hapmap]
rs1180082	1.00[CHB][hapmap]
rs1180086	1.00[CHB][hapmap]
rs1180089	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1180091	1.00[CHB][hapmap]
rs1180094	1.00[CHB][hapmap]
rs1180099	1.00[CHB][hapmap]
rs1180100	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1180110	1.00[CHB][hapmap]
rs1180113	1.00[CHB][hapmap]
rs1180119	1.00[CHB][hapmap]
rs1180127	1.00[CHB][hapmap]
rs17052678	1.00[CHB][hapmap]
rs1927094	1.00[CHB][hapmap]
rs1927146	1.00[CHB][hapmap]
rs2182735	1.00[CHB][hapmap]
rs2309644	1.00[CHB][hapmap]
rs2309645	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7047789	1.00[CHB][hapmap]
rs943535	1.00[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:72972800-73002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:72992000-73002400	Weak transcription	Aorta	Aorta
4	chr9:72995400-73018200	Weak transcription	NHDF-Ad	bronchial
5	chr9:72997600-73001400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr9:72997600-73002600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:72997600-73003400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:72997800-73002400	Strong transcription	HSMM	muscle
9	chr9:72997800-73003400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:72997800-73004400	Weak transcription	Esophagus	oesophagus
11	chr9:72998000-73002800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:72998000-73003000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:72998000-73004400	Weak transcription	Spleen	Spleen
14	chr9:72998200-73002600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:72998200-73003000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr9:72998200-73005400	Weak transcription	Primary T cells from cord blood	blood
17	chr9:72998400-73004400	Weak transcription	Small Intestine	intestine
18	chr9:72998600-73002400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:72998600-73002600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:72998600-73002600	Weak transcription	Gastric	stomach
21	chr9:72998600-73002600	Weak transcription	Right Atrium	heart
22	chr9:72998600-73003000	Strong transcription	Adipose Nuclei	Adipose
23	chr9:72998600-73003200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:72998600-73007400	Weak transcription	Colonic Mucosa	Colon
25	chr9:72998800-73002400	Weak transcription	Lung	lung
26	chr9:72999000-73003600	Strong transcription	Liver	Liver
27	chr9:72999200-73002800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:72999200-73002800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr9:72999200-73006000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr9:72999400-73005600	Weak transcription	Thymus	Thymus
31	chr9:72999400-73005800	Weak transcription	HSMMtube	muscle
32	chr9:72999600-73002400	Weak transcription	HepG2	liver
33	chr9:72999600-73002600	Weak transcription	Right Ventricle	heart
34	chr9:72999600-73003400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:72999800-73004400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr9:73000200-73001600	Strong transcription	HUVEC	blood vessel
37	chr9:73000200-73003000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:73000200-73004400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:73000400-73001400	Strong transcription	Pancreas	Pancrea
40	chr9:73000400-73001600	Genic enhancers	Brain Substantia Nigra	brain
41	chr9:73000400-73001600	Strong transcription	Ovary	ovary
42	chr9:73000400-73001600	Genic enhancers	Rectal Smooth Muscle	rectum
43	chr9:73000400-73001600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:73000400-73002400	Strong transcription	Left Ventricle	heart
45	chr9:73000400-73002600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr9:73000400-73002800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:73000400-73002800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr9:73000400-73002800	Strong transcription	Osteobl	bone
49	chr9:73000400-73003200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:73000600-73001400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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