Variant report

Variant	rs3807996
Chromosome Location	chr7:116376807-116376808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116367638..116371989-chr7:116374128..116379673,5	K562	blood:
2	chr7:116368864..116371989-chr7:116376223..116379673,4	K562	blood:
3	chr7:116375738..116377336-chr7:116438734..116441464,2	K562	blood:
4	chr7:116364627..116366645-chr7:116374749..116377024,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12533223	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540703	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16870030	0.82[JPT][hapmap]
rs17138978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139063	0.82[JPT][hapmap]
rs2237716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38858	0.90[YRI][hapmap]
rs58086374	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61248776	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949201	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73471107	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73471137	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779694	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1024485	chr7:116375336-116391582	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116351800-116407000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:116357400-116409800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116366600-116380800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:116367000-116380800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:116367800-116381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:116368000-116381200	Weak transcription	Placenta	Placenta
7	chr7:116368200-116377000	Weak transcription	NHDF-Ad	bronchial
8	chr7:116368200-116380800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:116370000-116379000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:116370800-116377200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:116370800-116377600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116371400-116380200	Weak transcription	Hela-S3	cervix
13	chr7:116371600-116379200	Genic enhancers	A549	lung
14	chr7:116371800-116377000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:116371800-116377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:116371800-116382800	Weak transcription	Left Ventricle	heart
17	chr7:116372000-116377000	Weak transcription	Psoas Muscle	Psoas
18	chr7:116373200-116377600	Weak transcription	Stomach Mucosa	stomach
19	chr7:116373600-116377400	Enhancers	HSMM	muscle
20	chr7:116374000-116377000	Enhancers	HUVEC	blood vessel
21	chr7:116374400-116377400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:116375000-116377000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:116375000-116418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:116375400-116377400	Weak transcription	HMEC	breast
25	chr7:116375400-116378000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:116375400-116379000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:116375400-116380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:116375400-116381200	Weak transcription	Pancreas	Pancrea
29	chr7:116375600-116377000	Weak transcription	HSMMtube	muscle
30	chr7:116375600-116378600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:116375600-116379400	Weak transcription	Fetal Stomach	stomach
32	chr7:116375600-116381400	Weak transcription	Brain Substantia Nigra	brain
33	chr7:116375800-116380000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:116375800-116411200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:116376000-116377200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:116376000-116377200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:116376000-116378600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:116376000-116380800	Weak transcription	Gastric	stomach
39	chr7:116376200-116377200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:116376200-116381000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:116376400-116378000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:116376600-116377000	Strong transcription	NHEK	skin
43	chr7:116376600-116377400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:116376600-116377400	Enhancers	Fetal Lung	lung
45	chr7:116376600-116377800	Enhancers	NH-A	brain
46	chr7:116376600-116378600	Enhancers	Osteobl	bone
47	chr7:116376600-116379000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:116376600-116379200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:116376600-116379200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:116376600-116379200	Enhancers	HUES48 Cell Line	embryonic stem cell

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