Variant report

Variant	rs2397224
Chromosome Location	chr6:56311008-56311009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56298845..56301782-chr6:56308570..56311442,2	MCF-7	breast:
2	chr6:56308676..56311120-chr6:56312464..56314114,2	MCF-7	breast:
3	chr6:56302783..56304567-chr6:56307682..56311074,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1024196	1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11963288	0.94[EUR][1000 genomes]
rs11966986	0.89[EUR][1000 genomes]
rs11967796	0.89[EUR][1000 genomes]
rs11970410	0.89[EUR][1000 genomes]
rs1407831	1.00[EUR][1000 genomes]
rs1535609	0.94[EUR][1000 genomes]
rs1535611	0.94[EUR][1000 genomes]
rs16887921	0.92[AFR][1000 genomes]
rs16887928	1.00[EUR][1000 genomes]
rs16888070	0.89[EUR][1000 genomes]
rs2144407	0.89[EUR][1000 genomes]
rs2180148	0.89[EUR][1000 genomes]
rs2207678	0.89[EUR][1000 genomes]
rs28633631	0.89[EUR][1000 genomes]
rs3800026	0.94[EUR][1000 genomes]
rs3924307	0.94[EUR][1000 genomes]
rs41267673	0.89[EUR][1000 genomes]
rs41271848	1.00[EUR][1000 genomes]
rs41271850	1.00[EUR][1000 genomes]
rs41271854	0.94[EUR][1000 genomes]
rs41271856	0.94[EUR][1000 genomes]
rs41271872	0.89[EUR][1000 genomes]
rs41271876	0.89[EUR][1000 genomes]
rs41271878	0.89[EUR][1000 genomes]
rs4256439	0.94[EUR][1000 genomes]
rs4288197	0.84[EUR][1000 genomes]
rs45442999	0.94[EUR][1000 genomes]
rs45553042	0.84[EUR][1000 genomes]
rs4628100	1.00[GIH][hapmap]
rs57289287	0.89[EUR][1000 genomes]
rs57350484	0.89[EUR][1000 genomes]
rs57790896	0.89[EUR][1000 genomes]
rs57822928	0.94[EUR][1000 genomes]
rs58730144	0.94[EUR][1000 genomes]
rs59772940	0.89[EUR][1000 genomes]
rs59864125	0.94[EUR][1000 genomes]
rs62621210	0.94[EUR][1000 genomes]
rs6900572	0.89[EUR][1000 genomes]
rs6903815	0.89[EUR][1000 genomes]
rs6922693	0.81[AFR][1000 genomes]
rs6941626	0.89[EUR][1000 genomes]
rs73455767	0.94[EUR][1000 genomes]
rs73455782	0.94[EUR][1000 genomes]
rs73465854	0.94[EUR][1000 genomes]
rs73746926	0.89[EUR][1000 genomes]
rs73747825	0.83[AFR][1000 genomes]
rs73747826	1.00[EUR][1000 genomes]
rs73747832	1.00[EUR][1000 genomes]
rs73749935	0.94[EUR][1000 genomes]
rs73749942	0.94[EUR][1000 genomes]
rs73749948	0.94[EUR][1000 genomes]
rs73749949	0.94[EUR][1000 genomes]
rs7749100	0.89[EUR][1000 genomes]
rs7759479	1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7760503	0.89[EUR][1000 genomes]
rs7760701	0.89[EUR][1000 genomes]
rs7761027	0.89[EUR][1000 genomes]
rs7769014	0.94[EUR][1000 genomes]
rs7775134	1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs9475693	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56304200-56314800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:56305600-56313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56305600-56315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:56305600-56318600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:56305600-56319600	Weak transcription	HMEC	breast
6	chr6:56306600-56319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:56307400-56313000	Weak transcription	Ovary	ovary
8	chr6:56308600-56311600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:56309000-56321000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:56309400-56322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:56309600-56311600	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:56309600-56311800	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:56309800-56315000	Weak transcription	HSMM	muscle
15	chr6:56310000-56311200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:56310000-56315000	Weak transcription	Aorta	Aorta
17	chr6:56310200-56313400	Weak transcription	Fetal Heart	heart
18	chr6:56310200-56313400	Weak transcription	Right Atrium	heart
19	chr6:56310400-56315400	Weak transcription	NH-A	brain
20	chr6:56310400-56321000	Weak transcription	Left Ventricle	heart
21	chr6:56310600-56311600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:56310800-56311800	Enhancers	Colon Smooth Muscle	Colon
23	chr6:56310800-56311800	Enhancers	Fetal Lung	lung
24	chr6:56310800-56314600	Weak transcription	HepG2	liver
25	chr6:56311000-56315600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:56311000-56315800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:56311000-56315800	Weak transcription	Psoas Muscle	Psoas
28	chr6:56311000-56316200	Weak transcription	Osteobl	bone

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