Variant report

Variant	rs17035153
Chromosome Location	chr12:104443465-104443466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104442014..104443659-chr12:104530642..104533573,2	MCF-7	breast:
2	chr12:104441752..104444274-chr12:104682358..104684016,2	K562	blood:
3	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:
4	chr12:104441740..104444353-chr12:104456837..104458918,2	K562	blood:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10507174	1.00[MKK][hapmap]
rs11553765	1.00[AFR][1000 genomes]
rs12427086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12581921	0.81[CHB][hapmap]
rs1564892	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17034880	1.00[MKK][hapmap]
rs17035129	0.95[JPT][hapmap];1.00[AFR][1000 genomes]
rs17180749	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs17192854	1.00[MKK][hapmap]
rs1882019	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs2293626	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs2583230	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs2629751	0.85[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2629798	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs2722170	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2722175	0.85[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2723867	0.84[ASN][1000 genomes]
rs3751207	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs3751208	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs3829300	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs4129598	1.00[MKK][hapmap]
rs4135082	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs4135085	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs4135087	0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs4135092	0.86[GIH][hapmap]
rs4545635	1.00[MKK][hapmap]
rs4614534	1.00[MKK][hapmap]
rs55675238	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55997300	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56269347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57041861	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs728167	1.00[MKK][hapmap]
rs7299866	1.00[MKK][hapmap]
rs7358625	0.93[ASN][1000 genomes]
rs9788014	1.00[MKK][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104439400-104443800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:104441800-104444600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:104442000-104443600	Active TSS	Fetal Muscle Trunk	muscle
4	chr12:104442000-104444400	Active TSS	Aorta	Aorta
5	chr12:104442400-104444400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr12:104442400-104444600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:104442600-104444600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr12:104442600-104444600	Active TSS	Right Atrium	heart
9	chr12:104442800-104443600	Active TSS	HSMMtube	muscle
10	chr12:104442800-104443800	Active TSS	HSMM	muscle
11	chr12:104442800-104444000	Active TSS	Fetal Stomach	stomach
12	chr12:104442800-104444000	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:104442800-104444000	Active TSS	NHLF	lung
14	chr12:104442800-104444200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104442800-104444200	Active TSS	Colon Smooth Muscle	Colon
16	chr12:104442800-104444200	Active TSS	Stomach Smooth Muscle	stomach
17	chr12:104442800-104444400	Active TSS	Ovary	ovary
18	chr12:104442800-104444600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:104442800-104444600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:104443000-104443600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr12:104443000-104443600	Bivalent Enhancer	HepG2	liver
22	chr12:104443000-104444000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:104443000-104444000	Active TSS	Hela-S3	cervix
24	chr12:104443000-104444200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr12:104443000-104444200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104443000-104444200	Active TSS	Fetal Lung	lung
27	chr12:104443000-104444400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:104443000-104444600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:104443000-104444600	Active TSS	NHDF-Ad	bronchial
30	chr12:104443200-104443600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:104443200-104443600	Active TSS	Brain Germinal Matrix	brain
32	chr12:104443200-104443800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:104443200-104443800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr12:104443200-104444000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:104443200-104444000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:104443200-104444000	Active TSS	HMEC	breast
37	chr12:104443200-104444000	Active TSS	NH-A	brain
38	chr12:104443200-104444200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr12:104443200-104444200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:104443200-104444200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104443200-104444200	Bivalent/Poised TSS	Fetal Brain Male	brain
42	chr12:104443200-104444200	Active TSS	Fetal Kidney	kidney
43	chr12:104443200-104444400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:104443200-104444400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr12:104443200-104444600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr12:104443400-104443600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:104443400-104443600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:104443400-104443600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:104443400-104443600	Active TSS	Primary hematopoietic stem cells	blood
50	chr12:104443400-104443600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links