Variant report

Variant	rs6050711
Chromosome Location	chr20:25596519-25596520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25594825..25598206-chr20:25602674..25604770,4	MCF-7	breast:
2	chr20:25591410..25597359-chr20:25600309..25606040,12	K562	blood:

Variant related genes	Relation type
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1609701	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1888038	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2210053	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242122	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242124	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242131	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2482909	1.00[ASN][1000 genomes]
rs2482917	1.00[ASN][1000 genomes]
rs2500407	1.00[ASN][1000 genomes]
rs2500409	1.00[ASN][1000 genomes]
rs2500412	1.00[ASN][1000 genomes]
rs2500419	1.00[ASN][1000 genomes]
rs2500421	1.00[MEX][hapmap]
rs2500447	1.00[ASN][1000 genomes]
rs28801689	1.00[ASN][1000 genomes]
rs2892407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs364722	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs366060	1.00[ASN][1000 genomes]
rs368636	1.00[ASN][1000 genomes]
rs368748	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs371447	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs378534	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs379538	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs380021	1.00[ASN][1000 genomes]
rs384336	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs388007	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs394798	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs400916	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs409873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs409888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs417446	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs417662	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs423248	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs426143	1.00[ASN][1000 genomes]
rs428801	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs429120	1.00[ASN][1000 genomes]
rs432403	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs439642	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs442728	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs448212	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4815433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4815434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs518336	1.00[ASW][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[AFR][1000 genomes]
rs55822316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56165312	1.00[ASN][1000 genomes]
rs56751491	1.00[ASN][1000 genomes]
rs57450264	1.00[ASN][1000 genomes]
rs59122217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59222176	1.00[ASN][1000 genomes]
rs6037112	1.00[ASN][1000 genomes]
rs6037113	1.00[ASN][1000 genomes]
rs6037118	1.00[MEX][hapmap]
rs6037119	1.00[ASN][1000 genomes]
rs6037147	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037194	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037197	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037200	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6037209	1.00[ASN][1000 genomes]
rs6037213	1.00[ASN][1000 genomes]
rs60483717	1.00[ASN][1000 genomes]
rs6050613	1.00[ASN][1000 genomes]
rs6050618	1.00[ASN][1000 genomes]
rs6050627	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs6050628	1.00[ASN][1000 genomes]
rs6050695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050735	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050772	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050776	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050839	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050852	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6050875	1.00[ASN][1000 genomes]
rs6076360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6076365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6083882	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6083883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6083887	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6115206	0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6115390	1.00[ASN][1000 genomes]
rs6132844	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7263728	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73904476	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73904499	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73907612	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73907614	1.00[ASN][1000 genomes]
rs8116049	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs913790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs913791	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs913793	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25580200-25603000	Weak transcription	Fetal Brain Male	brain
2	chr20:25581800-25603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25582000-25602800	Weak transcription	Osteobl	bone
4	chr20:25586000-25602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:25586200-25602800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:25587000-25603000	Weak transcription	HSMMtube	muscle
7	chr20:25587400-25600400	Weak transcription	K562	blood
8	chr20:25587600-25601400	Weak transcription	Pancreas	Pancrea
9	chr20:25588400-25597800	Strong transcription	Dnd41	blood
10	chr20:25588400-25599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr20:25588600-25599400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr20:25588600-25599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:25588600-25602800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:25589200-25601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:25589200-25602600	Weak transcription	Right Ventricle	heart
16	chr20:25590800-25602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr20:25590800-25603200	Weak transcription	Fetal Intestine Large	intestine
18	chr20:25591000-25603600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr20:25591400-25602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:25591600-25600200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr20:25591600-25602800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:25591600-25603000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr20:25591600-25603200	Weak transcription	Fetal Lung	lung
24	chr20:25592200-25597200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:25592200-25602600	Weak transcription	Colon Smooth Muscle	Colon
26	chr20:25592200-25602600	Weak transcription	NHLF	lung
27	chr20:25592200-25602800	Weak transcription	Small Intestine	intestine
28	chr20:25592200-25602800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr20:25592200-25603200	Weak transcription	Brain Germinal Matrix	brain
30	chr20:25592600-25597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:25592600-25602800	Weak transcription	Esophagus	oesophagus
32	chr20:25592600-25603200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr20:25592800-25603200	Weak transcription	Fetal Kidney	kidney
34	chr20:25592800-25603200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr20:25593000-25597000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr20:25593000-25597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr20:25593000-25597000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:25593000-25597400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:25593000-25597600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr20:25593000-25602800	Weak transcription	NH-A	brain
41	chr20:25593200-25597000	Strong transcription	Adipose Nuclei	Adipose
42	chr20:25593200-25600400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:25593400-25597200	Strong transcription	HUVEC	blood vessel
44	chr20:25593600-25597000	Strong transcription	HepG2	liver
45	chr20:25593600-25602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:25593800-25597000	Strong transcription	Liver	Liver
47	chr20:25593800-25597600	Strong transcription	Fetal Thymus	thymus
48	chr20:25593800-25603000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr20:25594000-25596800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr20:25594000-25597000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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