Variant report

Variant	rs41743
Chromosome Location	chr7:116439582-116439583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116375738..116377336-chr7:116438734..116441464,2	K562	blood:
2	7:116339031-116340618..7:116434729-116454408	Hela-S3	cervix:
3	7:116071525-116078307..7:116434729-116454408	H1-hESC	embryonic stem cell:	embryo
4	7:116434729-116454408..7:117341506-117356953	Hela-S3	cervix:
5	7:116434729-116454408..7:117641436-117645830	GM12878	blood:
6	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
7	7:116434729-116454408..7:116782481-116788433	GM12878	blood:
8	7:116093970-116105948..7:116434729-116454408	GM12878	blood:
9	7:115967532-115969617..7:116434729-116454408	H1-hESC	embryonic stem cell:	embryo
10	7:116245779-116258944..7:116434729-116454408	Hela-S3	cervix:
11	chr7:116435360..116437038-chr7:116438110..116441034,2	MCF-7	breast:
12	7:116434729-116454408..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
13	7:116434729-116454408..7:116580605-116585719	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000226367	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000234826	Chromatin interaction
ENSG00000243243	Chromatin interaction
ENSG00000237813	Chromatin interaction
ENSG00000252672	Chromatin interaction
ENSG00000231210	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000222150	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10435378	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1049618	1.00[YRI][hapmap]
rs11766819	0.81[JPT][hapmap]
rs168686	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs183642	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs187437	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2023748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299439	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402118	1.00[YRI][hapmap]
rs35759345	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38848	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs38854	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs38859	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39748	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs41735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41744	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41748	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41749	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41774	1.00[YRI][hapmap]
rs41775	1.00[YRI][hapmap]
rs42229	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42374	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730762	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs6566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947629	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs964449	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116421800-116444000	Weak transcription	Esophagus	oesophagus
2	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
6	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
8	chr7:116427000-116440800	Weak transcription	NHDF-Ad	bronchial
9	chr7:116427400-116440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
11	chr7:116429600-116441200	Weak transcription	Fetal Lung	lung
12	chr7:116430800-116440000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:116433200-116442400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:116433200-116442600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:116434800-116442200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:116435800-116442400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:116436200-116442600	Weak transcription	HUVEC	blood vessel
18	chr7:116436200-116442800	Weak transcription	Aorta	Aorta
19	chr7:116436400-116439800	Weak transcription	Liver	Liver
20	chr7:116436400-116440800	Weak transcription	NH-A	brain
21	chr7:116436600-116443800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:116436600-116445000	Enhancers	Hela-S3	cervix
23	chr7:116436800-116440600	Weak transcription	HepG2	liver
24	chr7:116436800-116442600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:116437000-116440600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:116437000-116440800	Weak transcription	Placenta	Placenta
27	chr7:116437000-116441000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:116437000-116442200	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:116437000-116444600	Weak transcription	Fetal Stomach	stomach
30	chr7:116437400-116442000	Enhancers	Fetal Intestine Large	intestine
31	chr7:116438200-116440800	Weak transcription	NHLF	lung
32	chr7:116438400-116439800	Enhancers	Small Intestine	intestine
33	chr7:116438600-116440800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:116438600-116442200	Weak transcription	Adipose Nuclei	Adipose
35	chr7:116438600-116442200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:116438600-116442800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:116438800-116440200	Weak transcription	HMEC	breast
38	chr7:116438800-116440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:116438800-116440800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:116438800-116441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:116438800-116442600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:116438800-116444600	Weak transcription	Colonic Mucosa	Colon
43	chr7:116438800-116448600	Weak transcription	Psoas Muscle	Psoas
44	chr7:116439000-116439600	Weak transcription	NHEK	skin
45	chr7:116439000-116440000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:116439000-116440200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:116439000-116440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:116439000-116440200	Weak transcription	A549	lung
49	chr7:116439000-116440800	Weak transcription	HSMM	muscle
50	chr7:116439000-116440800	Weak transcription	Osteobl	bone

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