Variant report

Variant	rs7486943
Chromosome Location	chr12:122071163-122071164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122070584..122072114-chr12:122100684..122102629,2	K562	blood:
2	chr12:122070438..122071974-chr12:122238811..122240422,2	MCF-7	breast:
3	chr12:122048372..122050638-chr12:122068464..122071383,2	K562	blood:
4	chr12:122068858..122070627-chr12:122070964..122073158,2	K562	blood:
5	chr12:122068936..122071796-chr12:122073971..122075897,3	K562	blood:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35343615	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760119	1.00[EUR][1000 genomes]
rs4760120	1.00[EUR][1000 genomes]
rs4760122	1.00[EUR][1000 genomes]
rs4760124	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981001	0.85[AMR][1000 genomes]
rs55692746	1.00[EUR][1000 genomes]
rs55699326	0.96[EUR][1000 genomes]
rs55911302	1.00[EUR][1000 genomes]
rs56166919	1.00[EUR][1000 genomes]
rs56790499	0.82[EUR][1000 genomes]
rs57099146	1.00[EUR][1000 genomes]
rs57195740	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58648683	1.00[EUR][1000 genomes]
rs59143714	1.00[EUR][1000 genomes]
rs59976026	1.00[EUR][1000 genomes]
rs60637634	1.00[EUR][1000 genomes]
rs73227908	0.85[AMR][1000 genomes]
rs73227911	0.85[AMR][1000 genomes]
rs73227927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73227935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73227941	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227943	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227944	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227945	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227946	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227949	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227954	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7397580	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122065600-122071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
4	chr12:122066200-122071400	Enhancers	Placenta	Placenta
5	chr12:122066200-122071400	Enhancers	Lung	lung
6	chr12:122066200-122071600	Enhancers	Liver	Liver
7	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:122066400-122071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:122066400-122071600	Enhancers	Psoas Muscle	Psoas
10	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:122066800-122071400	Genic enhancers	Fetal Intestine Small	intestine
12	chr12:122067600-122071600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:122067800-122071200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:122067800-122071200	Genic enhancers	Fetal Thymus	thymus
15	chr12:122067800-122071400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:122067800-122071400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:122068000-122071400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:122068000-122072600	Weak transcription	HSMM	muscle
20	chr12:122068200-122071200	Enhancers	HUVEC	blood vessel
21	chr12:122068200-122071400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:122068200-122078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:122068400-122071400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr12:122068600-122071600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:122069000-122071600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:122069200-122071600	Enhancers	Fetal Intestine Large	intestine
27	chr12:122069400-122071400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:122069400-122071600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:122069400-122074200	Weak transcription	Dnd41	blood
30	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
31	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
32	chr12:122069600-122071600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:122069800-122071400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:122069800-122071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122069800-122071400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr12:122069800-122071600	Enhancers	Fetal Stomach	stomach
37	chr12:122070000-122071200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:122070000-122071200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:122070000-122071200	Enhancers	Ovary	ovary
40	chr12:122070000-122071200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr12:122070000-122071200	Enhancers	NHLF	lung
42	chr12:122070000-122071400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:122070000-122071400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:122070000-122071400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:122070000-122071400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:122070000-122071400	Enhancers	Colon Smooth Muscle	Colon
47	chr12:122070000-122071400	Enhancers	Fetal Lung	lung
48	chr12:122070000-122071400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:122070000-122071400	Enhancers	Small Intestine	intestine
50	chr12:122070000-122071400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links