Variant report

Variant	rs6794860
Chromosome Location	chr3:101409665-101409666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101354862..101356465-chr3:101408456..101410903,2	K562	blood:
2	chr3:101406108..101410030-chr3:101441050..101443130,4	K562	blood:
3	chr3:101394514..101397777-chr3:101409248..101412571,4	K562	blood:
4	chr3:101394133..101397139-chr3:101409429..101412094,3	K562	blood:

Variant related genes	Relation type
ENSG00000256628	Chromatin interaction
ENSG00000182504	Chromatin interaction
ENSG00000066422	Chromatin interaction

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

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

rs_ID	r²[population]
rs1078153	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs11924203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929578	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12491044	0.88[EUR][1000 genomes]
rs12696325	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs1426386	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1569071	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs2466369	1.00[ASW][hapmap];0.93[TSI][hapmap]
rs2611836	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs2625282	1.00[ASW][hapmap];0.93[TSI][hapmap]
rs2625289	0.85[TSI][hapmap]
rs3846092	1.00[GIH][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41273611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234491	0.89[EUR][1000 genomes]
rs4683853	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4683930	0.88[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs6763679	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6764700	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6768114	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs6768182	0.89[EUR][1000 genomes]
rs6774950	0.82[EUR][1000 genomes]
rs6779278	0.89[EUR][1000 genomes]
rs6779775	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6788864	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs6791803	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6805496	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806256	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72948053	0.88[EUR][1000 genomes]
rs7613194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7618600	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7621062	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs7644519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101405800-101410000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:101406000-101411600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:101406200-101410000	Weak transcription	Esophagus	oesophagus
4	chr3:101406200-101410200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:101406400-101409800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:101406400-101409800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:101406400-101409800	Weak transcription	Pancreas	Pancrea
8	chr3:101406400-101409800	Weak transcription	HSMMtube	muscle
9	chr3:101406400-101410000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:101406400-101410000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:101406400-101410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:101406400-101410400	Weak transcription	HSMM	muscle
13	chr3:101406400-101414400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:101406400-101422200	Weak transcription	Ovary	ovary
15	chr3:101406600-101409800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:101406600-101409800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:101406600-101410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:101406600-101410000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:101406600-101414600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:101406600-101426400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:101406800-101409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:101406800-101409800	Weak transcription	Primary B cells from cord blood	blood
23	chr3:101406800-101409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:101406800-101410400	Weak transcription	HepG2	liver
25	chr3:101406800-101413800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:101406800-101414200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:101406800-101414200	Weak transcription	Fetal Kidney	kidney
28	chr3:101406800-101414400	Weak transcription	Brain Anterior Caudate	brain
29	chr3:101406800-101414400	Weak transcription	Fetal Brain Female	brain
30	chr3:101406800-101414600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:101406800-101419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:101407000-101410200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:101407000-101413400	Weak transcription	Right Atrium	heart
34	chr3:101407000-101422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:101408800-101409800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:101409200-101410600	Enhancers	K562	blood
37	chr3:101409400-101410200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:101409400-101410200	Enhancers	GM12878-XiMat	blood
39	chr3:101409600-101410200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:101409600-101410200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr3:101409600-101410200	Enhancers	Lung	lung
42	chr3:101409600-101410200	Enhancers	Spleen	Spleen
43	chr3:101409600-101410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:101409600-101410600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:101409600-101410800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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