Variant report

Variant	rs17118576
Chromosome Location	chr12:56810996-56810997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56807740..56810793-chr12:56810836..56813805,3	K562	blood:
2	chr12:56511836..56513746-chr12:56808662..56812493,3	K562	blood:
3	chr12:56511836..56513746-chr12:56809549..56812493,2	K562	blood:
4	chr12:56803609..56807046-chr12:56809230..56812188,3	K562	blood:

Variant related genes	Relation type
ENSG00000139641	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135482	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11465742	1.00[TSI][hapmap]
rs11575218	1.00[MEX][hapmap]
rs2066811	1.00[MEX][hapmap]
rs2450104	1.00[MEX][hapmap]
rs2629449	1.00[MEX][hapmap]
rs35382885	1.00[MEX][hapmap]
rs72478996	0.82[AFR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56797200-56814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56799600-56811000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:56803200-56811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56803600-56822200	Weak transcription	Colonic Mucosa	Colon
6	chr12:56804600-56811800	Weak transcription	NHLF	lung
7	chr12:56804600-56814200	Weak transcription	Esophagus	oesophagus
8	chr12:56805000-56826000	Weak transcription	Right Ventricle	heart
9	chr12:56805400-56814400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:56805600-56811000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:56805600-56814400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:56805800-56811400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:56805800-56819600	Strong transcription	Fetal Stomach	stomach
14	chr12:56805800-56828200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:56806000-56819000	Strong transcription	Thymus	Thymus
16	chr12:56806000-56821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:56806200-56811400	Weak transcription	Gastric	stomach
19	chr12:56806200-56814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:56806400-56811200	Weak transcription	Liver	Liver
21	chr12:56806400-56813000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:56806400-56813400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:56806400-56814000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:56806600-56811400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:56806600-56814200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:56806600-56819600	Strong transcription	Fetal Intestine Small	intestine
27	chr12:56806800-56811200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:56806800-56813200	Weak transcription	HUVEC	blood vessel
29	chr12:56806800-56815200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:56806800-56822600	Weak transcription	HSMM	muscle
31	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:56807000-56813200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:56807200-56825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:56807600-56819400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:56807800-56811400	Weak transcription	Osteobl	bone
45	chr12:56808000-56811000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:56808000-56811000	Weak transcription	Hela-S3	cervix
47	chr12:56808000-56812000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:56808200-56811000	Weak transcription	GM12878-XiMat	blood
49	chr12:56808400-56811400	Weak transcription	Lung	lung
50	chr12:56808400-56811600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links