Variant report

Variant	rs6083082
Chromosome Location	chr20:23332604-23332605
allele	A/G
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	TBL1XR1	chr20:23332015-23332777	K562	blood:	n/a	n/a
2	POLR2A	chr20:23329648-23333051	GM12878	blood:	n/a	n/a
3	REST	chr20:23330517-23332690	H1-neurons	neurons:	n/a	chr20:23331404-23331417
4	CREB1	chr20:23330312-23332624	HepG2	liver:	n/a	chr20:23331018-23331031
5	POLR2A	chr20:23329714-23332919	IMR90	lung:	n/a	n/a
6	MXI1	chr20:23330416-23332753	GM12878	blood:	n/a	n/a
7	MXI1	chr20:23329728-23332953	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr20:23330299-23332660	MCF10A-Er-Src	breast:	n/a	n/a
9	CHD1	chr20:23329900-23332842	IMR90	lung:	n/a	n/a
10	MXI1	chr20:23329824-23333171	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
2	chr20:23331362..23333588-chr20:23399396..23402095,2	K562	blood:
3	chr20:23029557..23031432-chr20:23330980..23333181,2	MCF-7	breast:
4	chr20:23332367..23335198-chr20:23611839..23614673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234832	TF binding region
ENSG00000178726	Chromatin interaction
ENSG00000125814	Chromatin interaction
ENSG00000270001	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11908625	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs1203994	0.82[ASN][1000 genomes]
rs2153986	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281433	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424556	0.84[LWK][hapmap]
rs2424557	0.86[LWK][hapmap]
rs56917308	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60130293	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036381	0.84[ASN][1000 genomes]
rs6036387	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036393	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036395	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036396	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036402	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048726	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048747	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6048748	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6048780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6048782	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048783	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048785	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048789	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048791	0.85[ASN][1000 genomes]
rs6048792	0.85[ASN][1000 genomes]
rs6048793	0.85[ASN][1000 genomes]
rs6076052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6076060	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076061	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076069	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083109	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083120	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083125	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6106650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6106652	0.83[ASN][1000 genomes]
rs6114053	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114078	0.85[ASN][1000 genomes]
rs6114086	0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs73303309	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73319497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7351246	0.82[TSI][hapmap]
rs7361799	0.81[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:23330000-23332800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:23330200-23332800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr20:23330200-23332800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:23330200-23332800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:23330200-23332800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr20:23330200-23332800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr20:23330200-23332800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr20:23330200-23332800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr20:23330200-23332800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:23330200-23332800	Active TSS	GM12878-XiMat	blood
12	chr20:23330200-23332800	Active TSS	K562	blood
13	chr20:23330200-23332800	Active TSS	NHDF-Ad	bronchial
14	chr20:23330400-23332800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr20:23330600-23332800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:23331600-23333000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr20:23331600-23333000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr20:23331600-23333000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr20:23331600-23333800	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr20:23331800-23332800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr20:23331800-23333000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:23331800-23333000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr20:23331800-23333000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr20:23331800-23333200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:23331800-23333200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr20:23332000-23333000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr20:23332000-23333000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr20:23332000-23333000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr20:23332000-23333200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:23332200-23332800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr20:23332200-23332800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:23332200-23332800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:23332200-23332800	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr20:23332200-23333000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:23332200-23333000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr20:23332200-23333000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:23332200-23333000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr20:23332200-23333000	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr20:23332200-23333000	Flanking Active TSS	HUVEC	blood vessel
40	chr20:23332200-23333000	Flanking Active TSS	NHLF	lung
41	chr20:23332200-23333000	Flanking Active TSS	Osteobl	bone
42	chr20:23332200-23333200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr20:23332200-23333200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr20:23332200-23333200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr20:23332200-23333600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr20:23332200-23333800	Enhancers	Small Intestine	intestine
47	chr20:23332200-23333800	Enhancers	Spleen	Spleen
48	chr20:23332200-23334600	Weak transcription	Aorta	Aorta
49	chr20:23332400-23332800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr20:23332400-23332800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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