Variant report

Variant	rs7965321
Chromosome Location	chr12:1779164-1779165
allele	C/T
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	chr12:1774859..1776787-chr12:1777892..1781197,3	K562	blood:
5	chr12:1774567..1781960-chr12:1797936..1801472,7	MCF-7	breast:
6	chr12:1775192..1776787-chr12:1778415..1781197,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10466906	0.81[AFR][1000 genomes]
rs11061981	0.81[AFR][1000 genomes]
rs12303097	0.81[AFR][1000 genomes]
rs7956914	0.81[AFR][1000 genomes]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1775200-1779600	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:1775200-1780000	Enhancers	Fetal Thymus	thymus
3	chr12:1775200-1780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:1775200-1781200	Enhancers	Fetal Intestine Small	intestine
5	chr12:1775600-1779400	Enhancers	Fetal Heart	heart
6	chr12:1776400-1779400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:1776400-1779600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:1776600-1779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:1777400-1781000	Enhancers	Fetal Intestine Large	intestine
10	chr12:1777800-1780600	Enhancers	Hela-S3	cervix
11	chr12:1778000-1779600	Enhancers	Small Intestine	intestine
12	chr12:1778200-1779200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:1778200-1779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:1778200-1779600	Weak transcription	Placenta	Placenta
15	chr12:1778200-1780000	Enhancers	Adipose Nuclei	Adipose
16	chr12:1778200-1781000	Enhancers	Stomach Mucosa	stomach
17	chr12:1778400-1779200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:1778400-1779400	Weak transcription	Left Ventricle	heart
19	chr12:1778400-1780600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:1778600-1779200	Weak transcription	Right Atrium	heart
21	chr12:1778600-1779600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:1778600-1779600	Weak transcription	Colonic Mucosa	Colon
23	chr12:1778600-1779600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:1778600-1780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:1778600-1780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:1778800-1779200	Active TSS	Liver	Liver
27	chr12:1778800-1780600	Enhancers	HepG2	liver

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