Variant report

Variant	rs9886265
Chromosome Location	chr7:6161061-6161062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6156091..6157968-chr7:6159776..6161519,2	K562	blood:
2	chr7:6160740..6163677-chr7:6167331..6169023,2	K562	blood:
3	chr7:6151184..6155498-chr7:6158937..6162352,4	K562	blood:
4	chr7:6160832..6162553-chr7:6165906..6168472,2	K562	blood:
5	chr7:6151627..6154487-chr7:6159088..6161082,3	K562	blood:

Variant related genes	Relation type
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10085518	0.93[JPT][hapmap]
rs10248850	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10253805	0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10254043	0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10257461	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265503	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272684	0.91[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs11762792	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12536508	0.91[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap]
rs12667826	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2107854	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs28844441	0.82[ASN][1000 genomes]
rs28847576	0.83[ASN][1000 genomes]
rs3793205	0.81[JPT][hapmap]
rs3793207	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs4035512	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56916541	0.80[ASN][1000 genomes]
rs59209465	0.81[ASN][1000 genomes]
rs59527940	0.83[ASN][1000 genomes]
rs61443193	0.85[ASN][1000 genomes]
rs61634333	0.96[ASN][1000 genomes]
rs61729726	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6463528	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463529	0.90[ASN][1000 genomes]
rs6953775	0.96[ASN][1000 genomes]
rs6961833	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6962026	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6973832	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6979025	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456581	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs7780867	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7788049	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810368	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs886675	0.80[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
11	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9886265	EIF2AK1	cis	cerebellum	SCAN
rs9886265	EIF2AK1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
4	chr7:6150600-6162000	Strong transcription	Osteobl	bone
5	chr7:6150600-6162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:6150600-6166000	Strong transcription	HepG2	liver
8	chr7:6150600-6171400	Strong transcription	Dnd41	blood
9	chr7:6150800-6161800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:6150800-6163600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
13	chr7:6151200-6162600	Strong transcription	Left Ventricle	heart
14	chr7:6151800-6163600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr7:6152200-6163000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:6153200-6163800	Strong transcription	Lung	lung
17	chr7:6154600-6162800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:6154800-6163000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:6155800-6161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:6156600-6164200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:6157200-6161200	Weak transcription	Spleen	Spleen
22	chr7:6157400-6167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:6157400-6179000	Weak transcription	Fetal Brain Male	brain
24	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
25	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
26	chr7:6158000-6162800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:6158000-6165200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:6158400-6161600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr7:6158400-6162600	Strong transcription	Ovary	ovary
30	chr7:6158600-6162000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:6158600-6162000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:6158600-6163000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:6158800-6161600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:6158800-6162000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:6158800-6162200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:6158800-6162800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:6159000-6162000	Strong transcription	HUVEC	blood vessel
38	chr7:6159000-6168200	Weak transcription	NHLF	lung
39	chr7:6159200-6161400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:6159200-6162000	ZNF genes & repeats	GM12878-XiMat	blood
41	chr7:6159400-6161600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr7:6159400-6162800	Strong transcription	Gastric	stomach
43	chr7:6159600-6161200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:6159600-6161600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:6159600-6161800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr7:6159600-6178200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:6159800-6161200	Weak transcription	Aorta	Aorta
48	chr7:6159800-6161400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:6159800-6161600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:6159800-6161600	ZNF genes & repeats	Fetal Intestine Small	intestine

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