Variant report

Variant	rs7978966
Chromosome Location	chr12:122329623-122329624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
2	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
3	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
4	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
5	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
6	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10840628	0.83[AFR][1000 genomes]
rs10840629	0.81[AFR][1000 genomes]
rs11043231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043249	0.92[EUR][1000 genomes]
rs11043252	0.92[EUR][1000 genomes]
rs11043253	0.92[EUR][1000 genomes]
rs11043254	0.92[EUR][1000 genomes]
rs12228603	1.00[EUR][1000 genomes]
rs3741586	0.96[EUR][1000 genomes]
rs4544045	0.84[AFR][1000 genomes]
rs58504997	0.92[EUR][1000 genomes]
rs59325626	0.92[EUR][1000 genomes]
rs6486785	0.92[EUR][1000 genomes]
rs7486904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962746	0.84[AFR][1000 genomes]
rs7964357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979818	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122327600-122331600	Weak transcription	Esophagus	oesophagus
5	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122327800-122329800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr12:122327800-122331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:122327800-122331200	Weak transcription	Fetal Kidney	kidney
9	chr12:122327800-122331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:122327800-122331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:122327800-122331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:122327800-122331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:122327800-122331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:122328000-122330000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:122328000-122331000	Weak transcription	Right Ventricle	heart
19	chr12:122328000-122331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:122328000-122332400	Enhancers	Fetal Intestine Large	intestine
21	chr12:122328200-122330600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:122328200-122330600	Weak transcription	K562	blood
23	chr12:122328200-122330800	Weak transcription	Thymus	Thymus
24	chr12:122328200-122330800	Weak transcription	A549	lung
25	chr12:122328200-122330800	Weak transcription	HepG2	liver
26	chr12:122328200-122331000	Weak transcription	Brain Substantia Nigra	brain
27	chr12:122328200-122331000	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:122328200-122331000	Weak transcription	Gastric	stomach
29	chr12:122328200-122331000	Weak transcription	Pancreas	Pancrea
30	chr12:122328200-122331000	Weak transcription	Hela-S3	cervix
31	chr12:122328200-122331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122328200-122331200	Weak transcription	Placenta	Placenta
33	chr12:122328200-122331200	Weak transcription	HSMM	muscle
34	chr12:122328200-122331200	Weak transcription	NH-A	brain
35	chr12:122328200-122331400	Weak transcription	Spleen	Spleen
36	chr12:122328200-122331400	Weak transcription	HSMMtube	muscle
37	chr12:122328200-122331400	Weak transcription	HUVEC	blood vessel
38	chr12:122328200-122332000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:122328200-122332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
42	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
45	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
46	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
47	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
48	chr12:122328400-122329800	Weak transcription	Primary T cells from cord blood	blood
49	chr12:122328400-122329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:122328400-122329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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