Variant report

Variant	rs7531640
Chromosome Location	chr1:85709915-85709916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85654589..85657084-chr1:85709286..85710971,2	K562	blood:
2	chr1:85709353..85713723-chr1:85723049..85726532,6	K562	blood:
3	chr1:85700522..85702496-chr1:85707627..85710446,2	MCF-7	breast:
4	chr1:85708208..85712302-chr1:85713167..85718221,7	K562	blood:
5	chr1:85665154..85667877-chr1:85708349..85710533,3	K562	blood:
6	chr1:85707621..85710304-chr1:85714410..85716081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction
ENSG00000162642	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11161539	0.81[JPT][hapmap]
rs11577656	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12065422	0.83[CHB][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17123650	0.97[GIH][hapmap]
rs6663690	0.85[AFR][1000 genomes]
rs6671589	0.97[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:85706400-85710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:85706400-85710000	Weak transcription	NH-A	brain
4	chr1:85706600-85710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:85706600-85716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:85706600-85716000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:85706600-85716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:85706800-85710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:85706800-85716000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:85707000-85715600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:85707000-85716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:85707000-85722800	Weak transcription	HepG2	liver
17	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
18	chr1:85707200-85710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:85707200-85710200	Weak transcription	HUVEC	blood vessel
20	chr1:85707200-85710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:85707200-85715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:85707200-85716000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:85707200-85716200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:85707800-85724400	Weak transcription	Lung	lung
25	chr1:85708600-85712400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:85708800-85710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:85709000-85710200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85709000-85710400	Enhancers	Colon Smooth Muscle	Colon
29	chr1:85709000-85710600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:85709000-85710600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:85709000-85710600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:85709000-85710800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:85709000-85710800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:85709000-85710800	Enhancers	Adipose Nuclei	Adipose
35	chr1:85709000-85711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:85709000-85711000	Enhancers	HSMMtube	muscle
37	chr1:85709000-85711400	Enhancers	Fetal Lung	lung
38	chr1:85709000-85711400	Enhancers	Hela-S3	cervix
39	chr1:85709000-85711600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:85709000-85711800	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:85709000-85712000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:85709000-85712000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:85709000-85712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:85709000-85712000	Enhancers	Osteobl	bone
45	chr1:85709200-85710200	Enhancers	NHDF-Ad	bronchial
46	chr1:85709200-85710600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr1:85709200-85710800	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:85709200-85711000	Enhancers	Brain Germinal Matrix	brain
49	chr1:85709200-85711400	Enhancers	Fetal Muscle Leg	muscle
50	chr1:85709200-85712200	Enhancers	Fetal Stomach	stomach

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