Variant report

Variant	rs876935
Chromosome Location	chr12:122355716-122355717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122355634-122356235	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122352837..122354864-chr12:122355521..122357983,3	MCF-7	breast:
2	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
3	chr12:122353848..122356586-chr12:122614343..122616936,2	MCF-7	breast:
4	chr12:122325289..122328252-chr12:122355129..122358130,3	MCF-7	breast:
5	chr12:122239660..122241230-chr12:122355073..122357147,2	MCF-7	breast:
6	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
7	chr12:122343793..122346484-chr12:122354637..122356922,2	MCF-7	breast:
8	chr12:122353628..122357829-chr12:122368964..122373628,4	MCF-7	breast:
9	chr12:122241012..122243645-chr12:122353946..122355842,2	MCF-7	breast:
10	chr12:122355691..122357856-chr12:122357924..122360707,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR66	TF binding region
ENSG00000239082	Chromatin interaction
ENSG00000255856	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1630694	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7314056	0.83[MEX][hapmap]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122333000-122356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:122336400-122356000	Strong transcription	Adipose Nuclei	Adipose
8	chr12:122338000-122356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122341000-122356000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:122341400-122355800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:122341600-122356000	Weak transcription	Fetal Heart	heart
12	chr12:122341600-122356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:122342200-122356000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:122344000-122355800	Strong transcription	Brain Germinal Matrix	brain
15	chr12:122344200-122355800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:122344400-122356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:122345400-122356000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122345600-122355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:122346200-122355800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:122346600-122356000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr12:122347000-122355800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:122347200-122356000	Weak transcription	Psoas Muscle	Psoas
23	chr12:122347800-122356000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:122347800-122356000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:122348000-122355800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:122349400-122356000	Weak transcription	Fetal Kidney	kidney
27	chr12:122350000-122355800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:122350000-122356000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:122350000-122356200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:122350600-122355800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:122350600-122355800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:122350600-122356000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:122351400-122355800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:122351800-122356000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:122351800-122356000	Strong transcription	Placenta	Placenta
36	chr12:122351800-122356000	Strong transcription	Thymus	Thymus
37	chr12:122353200-122355800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:122353200-122356400	Strong transcription	HepG2	liver
39	chr12:122353400-122355800	Strong transcription	Spleen	Spleen
40	chr12:122353400-122355800	Strong transcription	HUVEC	blood vessel
41	chr12:122353400-122356000	Strong transcription	Hela-S3	cervix
42	chr12:122353400-122356200	Genic enhancers	NHDF-Ad	bronchial
43	chr12:122353400-122356400	Strong transcription	Ovary	ovary
44	chr12:122353600-122356000	Genic enhancers	Fetal Thymus	thymus
45	chr12:122353600-122356600	Genic enhancers	HSMMtube	muscle
46	chr12:122353600-122356800	Strong transcription	A549	lung
47	chr12:122353800-122356000	Weak transcription	Fetal Lung	lung
48	chr12:122353800-122356000	Genic enhancers	Fetal Muscle Leg	muscle
49	chr12:122353800-122356200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:122354000-122355800	Strong transcription	Right Ventricle	heart

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