Variant report

Variant	rs11611743
Chromosome Location	chr12:49781335-49781336
allele	G/T
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:5)
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	chr12:49781301-49781371	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49780580..49783052-chr12:49784119..49786064,3	MCF-7	breast:
2	chr12:49764112..49768005-chr12:49780380..49782882,3	K562	blood:
3	chr12:49757723..49760575-chr12:49779057..49781957,2	K562	blood:
4	chr12:49759029..49763168-chr12:49779946..49784312,5	MCF-7	breast:
5	chr12:49759947..49763662-chr12:49780135..49782465,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257954	TF binding region
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10160947	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10161131	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10506284	1.00[ASN][1000 genomes]
rs10783314	0.87[EUR][1000 genomes]
rs10875958	0.81[EUR][1000 genomes]
rs11168988	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169005	0.87[EUR][1000 genomes]
rs11169008	0.88[EUR][1000 genomes]
rs11169009	0.87[EUR][1000 genomes]
rs11169014	0.83[EUR][1000 genomes]
rs11169015	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169016	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169017	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169027	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169043	0.84[EUR][1000 genomes]
rs11169045	0.83[EUR][1000 genomes]
rs11169048	0.96[EUR][1000 genomes]
rs11169049	0.92[EUR][1000 genomes]
rs11169058	0.83[EUR][1000 genomes]
rs11169059	0.83[EUR][1000 genomes]
rs11615710	0.80[EUR][1000 genomes]
rs11834161	1.00[ASN][1000 genomes]
rs12296440	0.83[EUR][1000 genomes]
rs12299282	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301632	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302036	0.83[ASN][1000 genomes]
rs12306118	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306212	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306645	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315996	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12320284	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322319	1.00[ASN][1000 genomes]
rs2272478	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28450055	1.00[ASN][1000 genomes]
rs57108124	1.00[ASN][1000 genomes]
rs57601151	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58095611	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59250459	1.00[ASN][1000 genomes]
rs60808917	0.83[EUR][1000 genomes]
rs61340540	1.00[ASN][1000 genomes]
rs6580707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580710	1.00[ASN][1000 genomes]
rs6580711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580715	0.83[EUR][1000 genomes]
rs6580716	1.00[ASN][1000 genomes]
rs7132684	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139061	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294648	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7295162	1.00[ASN][1000 genomes]
rs7295556	0.84[EUR][1000 genomes]
rs7309997	0.83[ASN][1000 genomes]
rs73295291	1.00[ASN][1000 genomes]
rs73295300	1.00[ASN][1000 genomes]
rs73297209	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297210	1.00[ASN][1000 genomes]
rs73297243	1.00[ASN][1000 genomes]
rs7342365	1.00[ASN][1000 genomes]
rs74089066	1.00[ASN][1000 genomes]
rs7488923	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7955541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961032	0.83[ASN][1000 genomes]
rs7962951	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970059	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7974420	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7980731	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49761800-49790800	Weak transcription	Small Intestine	intestine
2	chr12:49762200-49786200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:49762800-49789600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:49763800-49785600	Weak transcription	Thymus	Thymus
5	chr12:49763800-49791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49763800-49794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:49764000-49781400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:49764000-49782800	Weak transcription	Fetal Thymus	thymus
9	chr12:49764000-49797600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:49764000-49807400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:49764200-49782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:49764200-49786400	Weak transcription	HMEC	breast
13	chr12:49764200-49804200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
15	chr12:49764400-49791400	Weak transcription	HSMM	muscle
16	chr12:49764400-49822200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:49764600-49783000	Weak transcription	Left Ventricle	heart
18	chr12:49764800-49790400	Weak transcription	Psoas Muscle	Psoas
19	chr12:49765200-49787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:49766000-49783200	Weak transcription	Hela-S3	cervix
21	chr12:49766600-49822200	Weak transcription	NH-A	brain
22	chr12:49767200-49783000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:49767600-49783000	Weak transcription	Fetal Brain Female	brain
24	chr12:49767600-49787800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:49767800-49782600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:49767800-49783600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:49768000-49783000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:49768200-49782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:49768200-49783000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:49768200-49785400	Weak transcription	Dnd41	blood
31	chr12:49768200-49790000	Weak transcription	HepG2	liver
32	chr12:49768400-49782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:49768400-49782800	Weak transcription	NHEK	skin
34	chr12:49768400-49783000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:49768400-49783200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:49768400-49783200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:49768400-49790800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:49768400-49819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:49771000-49783000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:49772600-49782800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:49775800-49785800	Weak transcription	HUVEC	blood vessel
42	chr12:49776000-49797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:49776200-49782800	Weak transcription	A549	lung
44	chr12:49776200-49790800	Weak transcription	Osteobl	bone
45	chr12:49776200-49791200	Weak transcription	Aorta	Aorta
46	chr12:49776600-49786400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:49779200-49783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:49780000-49789200	Weak transcription	HSMMtube	muscle
49	chr12:49780600-49789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:49780800-49781600	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links