Variant report

Variant	rs8010129
Chromosome Location	chr14:31513099-31513100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31500047..31501717-chr14:31510659..31513368,2	K562	blood:
2	chr14:31500766..31503051-chr14:31511227..31514419,3	MCF-7	breast:
3	chr14:31493804..31495692-chr14:31511099..31513594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483355	0.89[CHB][hapmap]
rs10483356	0.89[CHB][hapmap]
rs10483359	0.80[CHB][hapmap]
rs11624437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11628852	0.99[ASN][1000 genomes]
rs11628884	0.99[ASN][1000 genomes]
rs12148037	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12892054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892778	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895788	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896059	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897532	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12898167	0.82[YRI][hapmap]
rs17097608	0.90[CHB][hapmap]
rs17097614	0.90[CHB][hapmap]
rs17097617	0.90[CHB][hapmap]
rs17097688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17097743	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2180610	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34671063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784161	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55788541	0.99[ASN][1000 genomes]
rs55907561	0.99[ASN][1000 genomes]
rs58771204	0.82[ASN][1000 genomes]
rs72670320	0.97[ASN][1000 genomes]
rs72670323	0.99[ASN][1000 genomes]
rs72670334	0.99[ASN][1000 genomes]
rs8008526	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
2	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
3	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
6	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
8	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:31501200-31514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
13	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:31503400-31520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:31503600-31517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
19	chr14:31507800-31514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:31508200-31517600	Weak transcription	NHEK	skin
24	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
25	chr14:31508400-31519800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:31508600-31522200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:31508600-31522400	Weak transcription	Pancreas	Pancrea
28	chr14:31508800-31517600	Weak transcription	Hela-S3	cervix
29	chr14:31508800-31517600	Weak transcription	HepG2	liver
30	chr14:31510000-31524600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:31511600-31513200	Enhancers	A549	lung
32	chr14:31512400-31513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:31512600-31513200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:31512600-31513200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:31512600-31513200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:31512800-31513200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:31512800-31526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr14:31513000-31513200	Enhancers	K562	blood

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