Variant report

Variant	rs7970637
Chromosome Location	chr12:122102979-122102980
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122101998..122103824-chr12:122123372..122125942,2	K562	blood:
2	chr12:122062316..122067670-chr12:122099995..122104493,7	K562	blood:
3	chr12:122091567..122095295-chr12:122101432..122103778,3	K562	blood:
4	chr12:122062924..122065725-chr12:122101425..122103195,2	MCF-7	breast:
5	chr12:122095665..122097425-chr12:122100873..122103460,2	MCF-7	breast:
6	chr12:122067919..122069512-chr12:122100581..122103506,2	K562	blood:
7	chr12:122062741..122064315-chr12:122100819..122103491,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11065574	1.00[AMR][1000 genomes]
rs11065587	1.00[AMR][1000 genomes]
rs11065588	1.00[AMR][1000 genomes]
rs11065597	1.00[AMR][1000 genomes]
rs11065601	1.00[AMR][1000 genomes]
rs12227224	1.00[AMR][1000 genomes]
rs28538950	1.00[AMR][1000 genomes]
rs3817550	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	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
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7970637	LOC96610	trans	lymphoblastoid	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
2	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:122097400-122103200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
6	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
7	chr12:122097600-122105000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:122097800-122103000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:122097800-122109400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:122101400-122103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:122101400-122103200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:122101600-122103000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:122101600-122103000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122101600-122103000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:122101600-122103200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr12:122101600-122103200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:122101600-122103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122101800-122103000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr12:122101800-122103000	Flanking Active TSS	Fetal Thymus	thymus
20	chr12:122101800-122103200	Active TSS	GM12878-XiMat	blood
21	chr12:122102000-122103000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:122102000-122103000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:122102000-122103000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:122102000-122103000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:122102000-122103000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:122102000-122103000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr12:122102000-122103000	Flanking Active TSS	Dnd41	blood
28	chr12:122102000-122103200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:122102000-122103200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:122102000-122103200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:122102000-122103200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr12:122102200-122103000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:122102200-122103000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:122102200-122103000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:122102200-122103200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:122102400-122106400	Weak transcription	Fetal Intestine Large	intestine
37	chr12:122102400-122109800	Weak transcription	Brain Anterior Caudate	brain
38	chr12:122102600-122103000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:122102600-122103000	Enhancers	Fetal Muscle Leg	muscle
40	chr12:122102600-122103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:122102600-122106400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:122102600-122106400	Weak transcription	Fetal Stomach	stomach
43	chr12:122102600-122106800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:122102600-122106800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:122102600-122109800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:122102600-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:122102800-122103000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:122102800-122103000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:122102800-122103200	Flanking Active TSS	K562	blood
50	chr12:122102800-122104200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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