Variant report

Variant	rs7570897
Chromosome Location	chr2:210073419-210073420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209330724..209331762-chr2:210072595..210073780,7	MCF-7	breast:
2	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
3	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
4	chr2:209272322..209273071-chr2:210072607..210073525,2	K562	blood:
5	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227430	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10169782	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198749	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932286	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932290	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158556	0.97[ASN][1000 genomes]
rs12053454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12467304	0.95[ASN][1000 genomes]
rs12472582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439729	0.97[ASN][1000 genomes]
rs1439740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439745	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1439747	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446612	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1837432	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900311	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1900312	0.96[ASN][1000 genomes]
rs1900324	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119037	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119040	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165169	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886335	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4640323	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4673452	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4673453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721786	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6753340	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561765	1.00[ASN][1000 genomes]
rs7563203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572758	1.00[ASN][1000 genomes]
rs7593854	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607391	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs966426	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs990298	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210072000-210075000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:210072400-210074800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:210072600-210074200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:210073000-210073600	Active TSS	Adipose Nuclei	Adipose
5	chr2:210073000-210073600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:210073000-210073600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:210073000-210073600	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:210073000-210073600	Active TSS	A549	lung
9	chr2:210073000-210073800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:210073000-210073800	Active TSS	HepG2	liver
11	chr2:210073000-210074000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:210073000-210074000	Active TSS	Primary hematopoietic stem cells	blood
13	chr2:210073000-210074000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:210073000-210074000	Active TSS	Thymus	Thymus
15	chr2:210073000-210074000	Active TSS	HUVEC	blood vessel
16	chr2:210073000-210074000	Active TSS	NHDF-Ad	bronchial
17	chr2:210073000-210074200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:210073000-210074200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:210073000-210074200	Active TSS	Brain Hippocampus Middle	brain
20	chr2:210073000-210074200	Active TSS	Ovary	ovary
21	chr2:210073000-210074200	Active TSS	Psoas Muscle	Psoas
22	chr2:210073000-210074200	Active TSS	Right Ventricle	heart
23	chr2:210073000-210074200	Active TSS	HSMM	muscle
24	chr2:210073000-210074200	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:210073000-210074400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:210073000-210074600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:210073000-210074600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:210073200-210073600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:210073200-210073600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:210073200-210073600	Active TSS	Hela-S3	cervix
31	chr2:210073200-210073800	Active TSS	Placenta	Placenta
32	chr2:210073200-210074000	Active TSS	Liver	Liver
33	chr2:210073200-210074200	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr2:210073200-210074200	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:210073200-210074200	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:210073200-210074400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:210073200-210074400	Active TSS	Brain Germinal Matrix	brain
38	chr2:210073400-210073600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:210073400-210074200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:210073400-210074200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:210073400-210074200	Active TSS	Fetal Muscle Trunk	muscle

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