Variant report

Variant	rs6948816
Chromosome Location	chr7:39694915-39694916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.83[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16880070	0.82[MEX][hapmap]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723890	1.00[EUR][1000 genomes]
rs4723896	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942614	0.94[AFR][1000 genomes]
rs6949371	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963428	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689251	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7789326	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][1000 genomes]

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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney
2	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
3	chr7:39674200-39696000	Weak transcription	Thymus	Thymus
4	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:39675600-39701400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:39679600-39695800	Weak transcription	Primary B cells from cord blood	blood
7	chr7:39680000-39700800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:39680000-39701000	Weak transcription	Esophagus	oesophagus
9	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:39680800-39704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:39682000-39700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:39682000-39704000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:39682000-39704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:39682400-39700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:39682600-39696000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:39682600-39702600	Weak transcription	Gastric	stomach
18	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:39683400-39701200	Weak transcription	Lung	lung
20	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:39683600-39696600	Weak transcription	Pancreas	Pancrea
22	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:39686200-39704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:39687400-39715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:39688000-39697800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:39688400-39696200	Weak transcription	Primary T cells from cord blood	blood
27	chr7:39688400-39700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:39688400-39702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:39689200-39703800	Weak transcription	Psoas Muscle	Psoas
30	chr7:39690200-39706600	Weak transcription	Fetal Heart	heart
31	chr7:39691000-39697200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:39691800-39696000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:39691800-39697000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:39691800-39697600	Weak transcription	Right Ventricle	heart
35	chr7:39691800-39698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:39691800-39698600	Weak transcription	Ovary	ovary
37	chr7:39691800-39699000	Weak transcription	NH-A	brain
38	chr7:39691800-39699200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:39691800-39700400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:39691800-39707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:39691800-39708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:39692000-39695400	Weak transcription	HUVEC	blood vessel
43	chr7:39692000-39696200	Weak transcription	Small Intestine	intestine
44	chr7:39692000-39697200	Weak transcription	Left Ventricle	heart
45	chr7:39692000-39697400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:39692000-39697600	Weak transcription	Right Atrium	heart
47	chr7:39692000-39699000	Weak transcription	Osteobl	bone
48	chr7:39692000-39701200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:39692000-39707000	Weak transcription	Stomach Mucosa	stomach
50	chr7:39692000-39707000	Weak transcription	HSMMtube	muscle

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