Variant report

Variant	rs531826185
Chromosome Location	chr12:118625876-118625877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118623962..118626821-chr12:118810133..118812850,4	MCF-7	breast:
2	chr12:118624725..118626657-chr12:118814280..118815876,2	K562	blood:
3	chr12:118624725..118628075-chr12:118814088..118815876,3	K562	blood:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction

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

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:118610600-118627600	Weak transcription	Esophagus	oesophagus
3	chr12:118612400-118626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:118619200-118626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118619200-118627600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118619400-118626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:118619400-118626600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:118619400-118626600	Weak transcription	Left Ventricle	heart
11	chr12:118619400-118626800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:118619400-118626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:118619400-118627400	Weak transcription	Lung	lung
14	chr12:118619400-118627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:118619400-118627600	Weak transcription	Colonic Mucosa	Colon
16	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:118619400-118635800	Weak transcription	Gastric	stomach
18	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
19	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
20	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118620200-118626600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:118620200-118627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:118620200-118636800	Weak transcription	Hela-S3	cervix
26	chr12:118620200-118656400	Weak transcription	HepG2	liver
27	chr12:118621000-118682600	Weak transcription	A549	lung
28	chr12:118621400-118633400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:118621400-118635800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:118621800-118629200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:118622000-118626600	Weak transcription	Liver	Liver
32	chr12:118622000-118626600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:118623400-118627200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:118623400-118628400	Strong transcription	Primary B cells from cord blood	blood
39	chr12:118623600-118628400	Strong transcription	Dnd41	blood
40	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:118623800-118626200	Weak transcription	HUVEC	blood vessel
42	chr12:118624000-118626600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:118624400-118626200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:118624400-118635400	Weak transcription	Small Intestine	intestine
45	chr12:118624600-118626400	Enhancers	Adipose Nuclei	Adipose
46	chr12:118624800-118628800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:118625000-118626000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:118625400-118626000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:118625400-118626000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:118625400-118626000	Genic enhancers	Fetal Muscle Leg	muscle

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