Variant report

Variant	rs7752113
Chromosome Location	chr6:128387428-128387429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:128387312-128387456	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PTPRK	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10046118	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10046119	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10046162	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10485161	0.82[EUR][1000 genomes]
rs10485162	0.82[EUR][1000 genomes]
rs10499136	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10499138	0.82[EUR][1000 genomes]
rs11962156	0.92[ASN][1000 genomes]
rs11962619	0.92[ASN][1000 genomes]
rs11962916	0.82[EUR][1000 genomes]
rs11963140	0.92[ASN][1000 genomes]
rs11967205	0.80[ASN][1000 genomes]
rs11967507	0.92[ASN][1000 genomes]
rs11968433	0.82[EUR][1000 genomes]
rs11970637	0.82[EUR][1000 genomes]
rs13217988	0.92[ASN][1000 genomes]
rs17053270	0.82[EUR][1000 genomes]
rs17055235	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17055290	0.82[EUR][1000 genomes]
rs17055300	0.82[EUR][1000 genomes]
rs17055360	0.82[EUR][1000 genomes]
rs17055365	0.82[EUR][1000 genomes]
rs17055403	0.82[EUR][1000 genomes]
rs17055412	0.82[EUR][1000 genomes]
rs17055415	0.82[EUR][1000 genomes]
rs17055421	0.82[EUR][1000 genomes]
rs17055443	0.82[EUR][1000 genomes]
rs17055445	0.82[EUR][1000 genomes]
rs17055461	0.82[EUR][1000 genomes]
rs17055488	0.82[EUR][1000 genomes]
rs17055499	0.82[EUR][1000 genomes]
rs17055501	0.82[EUR][1000 genomes]
rs17055507	0.82[EUR][1000 genomes]
rs1738273	0.82[EUR][1000 genomes]
rs1768358	0.82[EUR][1000 genomes]
rs1856497	0.82[EUR][1000 genomes]
rs1883810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2326672	0.89[ASN][1000 genomes]
rs28874136	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4131020	0.82[EUR][1000 genomes]
rs4265047	0.92[ASN][1000 genomes]
rs4327718	0.92[ASN][1000 genomes]
rs4336462	0.89[ASN][1000 genomes]
rs4339480	0.92[ASN][1000 genomes]
rs4421216	0.92[ASN][1000 genomes]
rs4475344	0.80[ASN][1000 genomes]
rs4496822	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4498384	0.92[ASN][1000 genomes]
rs4895828	0.89[ASN][1000 genomes]
rs4895832	0.82[EUR][1000 genomes]
rs4897241	1.00[ASN][1000 genomes]
rs4897242	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4897244	0.82[EUR][1000 genomes]
rs4897245	0.82[EUR][1000 genomes]
rs4897246	0.82[EUR][1000 genomes]
rs4897247	0.82[EUR][1000 genomes]
rs4897248	0.82[EUR][1000 genomes]
rs4897249	0.82[EUR][1000 genomes]
rs4897250	0.82[EUR][1000 genomes]
rs55828045	0.82[EUR][1000 genomes]
rs56042959	0.82[EUR][1000 genomes]
rs56932458	0.82[EUR][1000 genomes]
rs57062112	1.00[AMR][1000 genomes]
rs57797601	0.82[EUR][1000 genomes]
rs58544367	0.89[ASN][1000 genomes]
rs58652879	0.82[EUR][1000 genomes]
rs58706847	0.82[EUR][1000 genomes]
rs58766015	0.92[ASN][1000 genomes]
rs59408344	1.00[AMR][1000 genomes]
rs60264538	0.82[EUR][1000 genomes]
rs60436012	0.82[EUR][1000 genomes]
rs60702670	0.92[ASN][1000 genomes]
rs61111040	0.82[EUR][1000 genomes]
rs6900798	0.82[EUR][1000 genomes]
rs6905735	0.82[EUR][1000 genomes]
rs6909380	0.82[EUR][1000 genomes]
rs6910587	0.82[EUR][1000 genomes]
rs6912749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6913095	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6918772	0.82[EUR][1000 genomes]
rs6928445	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6928496	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6928512	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6929394	0.82[EUR][1000 genomes]
rs6929623	0.82[EUR][1000 genomes]
rs6933133	0.82[EUR][1000 genomes]
rs6938199	0.82[EUR][1000 genomes]
rs71565676	0.89[ASN][1000 genomes]
rs7341312	0.80[ASN][1000 genomes]
rs73582696	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73588698	0.82[EUR][1000 genomes]
rs73590666	0.82[EUR][1000 genomes]
rs73592613	0.82[EUR][1000 genomes]
rs73592686	0.82[EUR][1000 genomes]
rs73773990	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73773992	0.80[ASN][1000 genomes]
rs7751187	0.82[EUR][1000 genomes]
rs7754637	0.82[EUR][1000 genomes]
rs7757761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7758689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7768121	0.82[EUR][1000 genomes]
rs7772200	0.82[EUR][1000 genomes]
rs9321106	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9321107	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9321110	1.00[ASN][1000 genomes]
rs9375546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9388616	0.92[ASN][1000 genomes]
rs9402016	1.00[ASN][1000 genomes]
rs9482856	0.80[ASN][1000 genomes]
rs9482859	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482861	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482862	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482864	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482865	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482866	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482867	0.92[ASN][1000 genomes]
rs9482868	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9482869	0.92[ASN][1000 genomes]
rs9482872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9491904	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9491905	0.92[ASN][1000 genomes]
rs9491906	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9491909	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs970363	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv604643	chr6:128359362-128493991	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128320800-128388200	Weak transcription	NHEK	skin
3	chr6:128326600-128388200	Weak transcription	HMEC	breast
4	chr6:128342600-128388600	Weak transcription	Fetal Brain Female	brain
5	chr6:128347000-128405200	Weak transcription	Lung	lung
6	chr6:128350000-128401000	Weak transcription	Small Intestine	intestine
7	chr6:128353200-128388400	Weak transcription	NHLF	lung
8	chr6:128361200-128388000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:128367600-128398000	Weak transcription	HUVEC	blood vessel
10	chr6:128368400-128388000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:128369800-128388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:128370000-128388000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:128370000-128412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:128370800-128388000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:128372400-128412200	Weak transcription	Placenta	Placenta
16	chr6:128373400-128388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128373600-128388400	Weak transcription	Fetal Brain Male	brain
18	chr6:128373800-128388000	Weak transcription	Thymus	Thymus
19	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
20	chr6:128375000-128388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:128375000-128419400	Weak transcription	Gastric	stomach
22	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
23	chr6:128375400-128387800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:128375600-128413000	Weak transcription	Colonic Mucosa	Colon
25	chr6:128377400-128388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:128377600-128388400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:128377800-128403400	Weak transcription	Fetal Kidney	kidney
28	chr6:128378000-128390200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:128378800-128388000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:128379000-128388000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:128379400-128388000	Weak transcription	HSMMtube	muscle
33	chr6:128379400-128388600	Weak transcription	Left Ventricle	heart
34	chr6:128379400-128390400	Weak transcription	NHDF-Ad	bronchial
35	chr6:128379400-128396600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:128379400-128412200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:128379600-128390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:128379800-128388000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:128379800-128389200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:128380400-128388200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:128381000-128388200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:128381800-128389200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:128383000-128387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:128383000-128389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:128384000-128389600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr6:128384000-128396000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:128384200-128388000	Enhancers	Brain Hippocampus Middle	brain
48	chr6:128384400-128388000	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:128384400-128388000	Enhancers	Brain Substantia Nigra	brain
50	chr6:128385000-128388600	Strong transcription	Primary B cells from cord blood	blood

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