Variant report

Variant	rs1286705
Chromosome Location	chr1:62211379-62211380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62210256..62213172-chr1:62219077..62220998,2	MCF-7	breast:
2	chr1:62205058..62206604-chr1:62209401..62211579,2	MCF-7	breast:
3	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
4	chr1:62209123..62215729-chr1:62217503..62222690,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13373786	1.00[AMR][1000 genomes]
rs13375467	1.00[AMR][1000 genomes]
rs13375477	1.00[AMR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62209200-62211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:62209200-62212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:62209200-62213000	Weak transcription	Left Ventricle	heart
4	chr1:62209400-62212000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:62209400-62212200	Weak transcription	NHDF-Ad	bronchial
6	chr1:62209400-62212600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:62209600-62211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:62209600-62212000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:62209600-62212000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:62209600-62212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:62209600-62212200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:62209600-62212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:62209600-62212600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:62209600-62212600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:62209600-62212600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:62209600-62236200	Weak transcription	Aorta	Aorta
17	chr1:62209800-62211800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:62209800-62211800	Weak transcription	Ovary	ovary
19	chr1:62209800-62211800	Weak transcription	HepG2	liver
20	chr1:62209800-62212000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:62209800-62212000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:62209800-62212000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:62209800-62212000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:62209800-62212000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:62209800-62212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:62209800-62212000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:62209800-62212000	Weak transcription	Stomach Mucosa	stomach
28	chr1:62209800-62212400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:62209800-62212600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:62209800-62212600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:62209800-62219800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:62209800-62228600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:62209800-62228600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:62209800-62232000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:62210000-62211800	Weak transcription	Small Intestine	intestine
36	chr1:62210000-62212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:62210000-62223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:62210000-62253400	Weak transcription	Pancreas	Pancrea
39	chr1:62210200-62212000	Weak transcription	Liver	Liver
40	chr1:62210400-62211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:62210400-62212000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:62210400-62212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:62210400-62212000	Weak transcription	Gastric	stomach
44	chr1:62210400-62212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:62210400-62212200	Weak transcription	Fetal Kidney	kidney
46	chr1:62210400-62212800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:62210600-62211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:62210600-62211800	Weak transcription	Fetal Intestine Large	intestine
49	chr1:62210600-62212000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:62210600-62212000	Weak transcription	A549	lung

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