Variant report

Variant	rs7311218
Chromosome Location	chr12:1778134-1778135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
2	chr12:1777992..1779826-chr12:1874952..1877625,2	K562	blood:
3	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:
4	chr11:76494704..76495695-chr12:1777477..1778433,2	Hela-S3	cervix:
5	chr12:1774859..1776787-chr12:1777892..1781197,3	K562	blood:
6	chr12:1774567..1781960-chr12:1797936..1801472,7	MCF-7	breast:
7	chr12:1776467..1778477-chr12:1799080..1801498,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10734999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10744548	1.00[CHB][hapmap]
rs10773979	1.00[CHB][hapmap]
rs10848554	1.00[CHB][hapmap]
rs10848568	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11836547	1.00[CHB][hapmap]
rs12370189	0.82[CHB][hapmap]
rs4140993	1.00[CHB][hapmap]
rs7134070	1.00[CHB][hapmap]
rs7138701	1.00[CHB][hapmap]
rs7302234	1.00[CHB][hapmap]
rs7488369	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs767870	1.00[CHB][hapmap]
rs7975375	0.91[CEU][hapmap]
rs9805042	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
6	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1772600-1778200	Weak transcription	Lung	lung
2	chr12:1773800-1778600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:1774000-1778200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:1774400-1778200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:1774400-1778200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:1775200-1778200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:1775200-1778400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:1775200-1778600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:1775200-1779600	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:1775200-1780000	Enhancers	Fetal Thymus	thymus
11	chr12:1775200-1780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:1775200-1781200	Enhancers	Fetal Intestine Small	intestine
13	chr12:1775600-1779400	Enhancers	Fetal Heart	heart
14	chr12:1776200-1778200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:1776400-1778200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:1776400-1778400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:1776400-1778800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:1776400-1779400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:1776400-1779600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:1776600-1779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:1777200-1778200	Weak transcription	Stomach Mucosa	stomach
22	chr12:1777200-1778400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:1777200-1778800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:1777400-1778200	Active TSS	Right Atrium	heart
25	chr12:1777400-1781000	Enhancers	Fetal Intestine Large	intestine
26	chr12:1777600-1778400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:1777600-1778600	Enhancers	Thymus	Thymus
28	chr12:1777600-1778800	Enhancers	HUVEC	blood vessel
29	chr12:1777800-1778200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:1777800-1778200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:1777800-1778200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:1777800-1778200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr12:1777800-1778400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:1777800-1778400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr12:1777800-1778400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:1777800-1778400	Enhancers	GM12878-XiMat	blood
37	chr12:1777800-1778600	Enhancers	Primary T cells from cord blood	blood
38	chr12:1777800-1778600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:1777800-1778600	Enhancers	Brain Angular Gyrus	brain
40	chr12:1777800-1778600	Enhancers	Colonic Mucosa	Colon
41	chr12:1777800-1778600	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:1777800-1778600	Enhancers	Ovary	ovary
43	chr12:1777800-1778800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:1777800-1778800	Flanking Active TSS	HepG2	liver
45	chr12:1777800-1778800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:1777800-1780600	Enhancers	Hela-S3	cervix
47	chr12:1778000-1778200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:1778000-1778200	Enhancers	Fetal Brain Female	brain
49	chr12:1778000-1778200	Enhancers	Placenta	Placenta
50	chr12:1778000-1778200	Flanking Active TSS	Left Ventricle	heart

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