Variant report

Variant	rs6083902
Chromosome Location	chr20:25591651-25591652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25591410..25597359-chr20:25600309..25606040,12	K562	blood:
2	chr20:25565669..25567691-chr20:25589575..25591677,2	MCF-7	breast:
3	chr20:25590781..25592605-chr20:25602144..25606440,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101004	Chromatin interaction
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1569617	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1883528	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2006249	0.84[AFR][1000 genomes]
rs2103661	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs242133	0.89[AFR][1000 genomes]
rs2892408	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35516971	0.86[AFR][1000 genomes]
rs41308623	0.85[AFR][1000 genomes]
rs4815436	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6037159	0.85[AFR][1000 genomes]
rs6037161	0.84[AFR][1000 genomes]
rs6037164	0.85[AFR][1000 genomes]
rs6037166	0.85[AFR][1000 genomes]
rs6037167	0.85[AFR][1000 genomes]
rs6037179	0.84[AFR][1000 genomes]
rs6037180	0.84[AFR][1000 genomes]
rs6037192	0.82[AFR][1000 genomes]
rs6037193	0.86[AFR][1000 genomes]
rs60394570	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6050692	0.89[AFR][1000 genomes]
rs6050707	0.86[AFR][1000 genomes]
rs6050709	0.84[AFR][1000 genomes]
rs6050710	0.87[AFR][1000 genomes]
rs6050712	0.87[AFR][1000 genomes]
rs6050714	0.84[AFR][1000 genomes]
rs6050717	0.85[AFR][1000 genomes]
rs6050720	0.85[AFR][1000 genomes]
rs6050723	0.85[AFR][1000 genomes]
rs6050724	0.85[AFR][1000 genomes]
rs6050725	0.86[AFR][1000 genomes]
rs6050726	0.83[AFR][1000 genomes]
rs6050727	0.85[AFR][1000 genomes]
rs6050729	0.83[AFR][1000 genomes]
rs6050730	0.85[AFR][1000 genomes]
rs6050732	0.85[AFR][1000 genomes]
rs6050733	0.85[AFR][1000 genomes]
rs6050737	0.84[AFR][1000 genomes]
rs6050743	0.82[AFR][1000 genomes]
rs6050745	0.83[AFR][1000 genomes]
rs6050749	0.80[AFR][1000 genomes]
rs6050753	0.81[AFR][1000 genomes]
rs6050754	0.80[AFR][1000 genomes]
rs6050758	0.84[AFR][1000 genomes]
rs6050768	0.83[AFR][1000 genomes]
rs6050788	0.86[AFR][1000 genomes]
rs6076372	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083896	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083897	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083899	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6115220	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6115224	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6132850	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6138608	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6138612	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6138613	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7346687	0.81[AFR][1000 genomes]
rs8120065	0.85[AFR][1000 genomes]
rs8120594	0.87[AFR][1000 genomes]
rs8121013	0.85[AFR][1000 genomes]
rs8126236	0.84[AFR][1000 genomes]
rs981441	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	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
12	nsv912832	chr20:25527984-25595175	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv912833	chr20:25539486-25595175	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 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	chr20:25581600-25594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr20:25581800-25594000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:25581800-25603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:25582000-25593200	Weak transcription	Adipose Nuclei	Adipose
6	chr20:25582000-25594800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:25582000-25602800	Weak transcription	Osteobl	bone
8	chr20:25582200-25593000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:25583600-25594200	Weak transcription	Aorta	Aorta
10	chr20:25584400-25593800	Weak transcription	Liver	Liver
11	chr20:25585600-25595200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr20:25586000-25602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:25586200-25593400	Weak transcription	Fetal Stomach	stomach
14	chr20:25586200-25602800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr20:25586400-25593800	Weak transcription	Fetal Thymus	thymus
16	chr20:25586800-25593400	Weak transcription	Ovary	ovary
17	chr20:25587000-25593600	Weak transcription	Left Ventricle	heart
18	chr20:25587000-25593800	Weak transcription	Fetal Muscle Leg	muscle
19	chr20:25587000-25594000	Weak transcription	HSMM	muscle
20	chr20:25587000-25603000	Weak transcription	HSMMtube	muscle
21	chr20:25587200-25594400	Weak transcription	A549	lung
22	chr20:25587400-25600400	Weak transcription	K562	blood
23	chr20:25587600-25601400	Weak transcription	Pancreas	Pancrea
24	chr20:25588000-25595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr20:25588200-25593000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr20:25588200-25594400	Weak transcription	Primary T cells from cord blood	blood
27	chr20:25588400-25592200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:25588400-25597800	Strong transcription	Dnd41	blood
29	chr20:25588400-25599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr20:25588600-25596200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr20:25588600-25599400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr20:25588600-25599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr20:25588600-25602800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr20:25588800-25595800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr20:25589000-25593000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:25589200-25593000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:25589200-25593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:25589200-25594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:25589200-25601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:25589200-25602600	Weak transcription	Right Ventricle	heart
41	chr20:25589600-25593400	Weak transcription	HUVEC	blood vessel
42	chr20:25589800-25593600	Weak transcription	HepG2	liver
43	chr20:25590000-25593400	Weak transcription	Fetal Intestine Small	intestine
44	chr20:25590400-25593000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr20:25590800-25592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:25590800-25595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr20:25590800-25602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr20:25590800-25603200	Weak transcription	Fetal Intestine Large	intestine
49	chr20:25591000-25595400	Weak transcription	Lung	lung
50	chr20:25591000-25603600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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