Variant report

Variant	rs692227
Chromosome Location	chr1:62222558-62222559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62209123..62215729-chr1:62217503..62222690,8	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11207829	0.83[ASN][1000 genomes]
rs11207830	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12040089	0.83[ASN][1000 genomes]
rs1286837	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17378676	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1833047	0.85[ASN][1000 genomes]
rs1892022	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1892023	0.86[ASN][1000 genomes]
rs7551399	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62209600-62236200	Weak transcription	Aorta	Aorta
2	chr1:62209800-62228600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:62209800-62228600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:62209800-62232000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:62210000-62223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:62210000-62253400	Weak transcription	Pancreas	Pancrea
7	chr1:62210600-62229200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:62212000-62230800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:62212200-62229000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:62212200-62254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:62212800-62255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:62213000-62235000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:62213200-62234600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:62213600-62253000	Weak transcription	Fetal Kidney	kidney
15	chr1:62213600-62263200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:62216000-62229400	Weak transcription	Liver	Liver
17	chr1:62217600-62254600	Weak transcription	Fetal Stomach	stomach
18	chr1:62218800-62229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:62218800-62229800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:62219000-62223000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:62219000-62228400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:62219000-62229000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:62219000-62231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:62219200-62228400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:62219200-62229000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:62219200-62246600	Weak transcription	Stomach Mucosa	stomach
27	chr1:62220000-62230000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:62220200-62223400	Weak transcription	A549	lung
29	chr1:62220200-62290200	Weak transcription	Lung	lung
30	chr1:62220200-62310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:62220400-62223400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:62220400-62231600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:62220400-62242000	Weak transcription	HepG2	liver
34	chr1:62220600-62222800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:62220800-62223600	Weak transcription	NHEK	skin
36	chr1:62220800-62224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:62220800-62224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:62220800-62225800	Weak transcription	HMEC	breast
39	chr1:62221000-62246400	Weak transcription	Primary T cells from cord blood	blood
40	chr1:62221800-62263000	Weak transcription	Colonic Mucosa	Colon
41	chr1:62222000-62230400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:62222000-62293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:62222200-62223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:62222200-62230000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:62222200-62233400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:62222200-62260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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