Variant report

Variant	rs6590814
Chromosome Location	chr11:100590270-100590271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100578654..100584539-chr11:100585758..100591241,5	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10128687	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431108	0.94[ASN][1000 genomes]
rs10895009	0.97[ASN][1000 genomes]
rs10895011	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224403	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11224417	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11224435	0.80[ASN][1000 genomes]
rs1144128	0.86[YRI][hapmap]
rs1216743	0.86[ASN][1000 genomes]
rs12269905	0.87[ASN][1000 genomes]
rs12286062	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12288075	0.87[ASN][1000 genomes]
rs12291493	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1502284	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1847149	0.93[ASN][1000 genomes]
rs1847150	0.93[ASN][1000 genomes]
rs2055449	0.81[ASN][1000 genomes]
rs2055450	0.83[ASN][1000 genomes]
rs2298609	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4312035	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs4495864	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4753984	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4754695	0.94[ASN][1000 genomes]
rs4754697	0.96[ASN][1000 genomes]
rs4754698	0.90[ASN][1000 genomes]
rs486023	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs492237	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs598369	0.87[YRI][hapmap]
rs604723	0.96[ASN][1000 genomes]
rs607562	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs633185	0.97[ASN][1000 genomes]
rs653320	0.85[ASN][1000 genomes]
rs6590810	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6590811	0.93[ASN][1000 genomes]
rs6590812	0.92[ASN][1000 genomes]
rs6590813	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6590816	0.85[ASN][1000 genomes]
rs6590817	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667575	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs670401	0.85[ASN][1000 genomes]
rs7103397	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105451	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106603	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112041	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7114867	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125452	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7130275	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926526	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928576	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7928871	0.83[ASN][1000 genomes]
rs7930157	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7938194	0.89[ASN][1000 genomes]
rs7938601	0.83[ASN][1000 genomes]
rs7946913	0.83[AFR][1000 genomes]
rs7952055	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9919648	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100561000-100590600	Weak transcription	Lung	lung
2	chr11:100586400-100590600	Weak transcription	Fetal Kidney	kidney
3	chr11:100588800-100591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:100589000-100592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:100589800-100590400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:100589800-100590400	Enhancers	Adipose Nuclei	Adipose
7	chr11:100589800-100590400	Enhancers	Liver	Liver
8	chr11:100589800-100590400	Enhancers	Brain Germinal Matrix	brain
9	chr11:100589800-100590600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:100589800-100590600	Enhancers	Colon Smooth Muscle	Colon
11	chr11:100589800-100590800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:100589800-100590800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:100589800-100591000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:100589800-100591000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:100589800-100591000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:100589800-100591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:100589800-100591000	Enhancers	Fetal Heart	heart
18	chr11:100589800-100591000	Enhancers	NHDF-Ad	bronchial
19	chr11:100589800-100591000	Enhancers	NHLF	lung
20	chr11:100589800-100591200	Flanking Active TSS	A549	lung
21	chr11:100590000-100590400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:100590000-100590600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr11:100590000-100590600	Enhancers	Fetal Brain Male	brain
24	chr11:100590000-100590800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:100590000-100590800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:100590000-100590800	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:100590000-100590800	Enhancers	Fetal Intestine Small	intestine
28	chr11:100590000-100591000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:100590000-100591000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:100590000-100591000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:100590000-100591000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:100590000-100591000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr11:100590000-100591000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:100590000-100591000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:100590000-100591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:100590000-100591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:100590000-100591000	Enhancers	Fetal Muscle Leg	muscle
38	chr11:100590000-100591000	Enhancers	Fetal Stomach	stomach
39	chr11:100590000-100591000	Enhancers	Gastric	stomach
40	chr11:100590000-100591000	Enhancers	Left Ventricle	heart
41	chr11:100590000-100591000	Enhancers	Psoas Muscle	Psoas
42	chr11:100590000-100591000	Enhancers	Stomach Mucosa	stomach
43	chr11:100590000-100591000	Enhancers	HSMM	muscle
44	chr11:100590000-100591000	Enhancers	Osteobl	bone
45	chr11:100590000-100591200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:100590000-100591200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:100590000-100591200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:100590000-100591200	Enhancers	HUVEC	blood vessel
49	chr11:100590000-100591200	Enhancers	NH-A	brain
50	chr11:100590200-100590400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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