Variant report

Variant	rs498377
Chromosome Location	chr7:112547374-112547375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112544603..112547584-chr7:112548579..112552785,5	K562	blood:
2	chr7:112544603..112547960-chr7:112549294..112552785,5	K562	blood:
3	chr7:112509437..112512329-chr7:112546581..112549311,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17160081	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
7	chr7:112522400-112551000	Weak transcription	Spleen	Spleen
8	chr7:112522400-112558400	Weak transcription	Gastric	stomach
9	chr7:112522400-112558800	Weak transcription	Lung	lung
10	chr7:112524200-112550800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:112524200-112556800	Weak transcription	Colonic Mucosa	Colon
12	chr7:112529800-112550800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:112530200-112551000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:112532400-112550800	Weak transcription	NHDF-Ad	bronchial
16	chr7:112534200-112551000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:112534400-112551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:112534600-112551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:112534800-112548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:112534800-112551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:112534800-112551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:112534800-112553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:112534800-112553600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:112535000-112551000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:112535000-112551000	Weak transcription	Fetal Kidney	kidney
26	chr7:112535000-112555400	Weak transcription	Esophagus	oesophagus
27	chr7:112535600-112550800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:112535600-112553800	Weak transcription	Placenta	Placenta
29	chr7:112536200-112550000	Weak transcription	HSMM	muscle
30	chr7:112538400-112551000	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:112538800-112565600	Weak transcription	Pancreas	Pancrea
32	chr7:112539000-112559400	Weak transcription	Fetal Stomach	stomach
33	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:112541600-112551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:112541600-112556200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:112541800-112548200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:112542000-112549000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:112543000-112557000	Weak transcription	HepG2	liver
39	chr7:112543400-112551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:112543400-112556000	Weak transcription	Fetal Thymus	thymus
41	chr7:112544400-112547400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:112545200-112550800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:112545400-112548200	Weak transcription	Ovary	ovary
44	chr7:112545400-112549600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr7:112545400-112550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:112545400-112550600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:112545400-112551000	Weak transcription	Left Ventricle	heart
48	chr7:112545400-112551000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:112545400-112551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:112545600-112551000	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links