Variant report

Variant	rs57992354
Chromosome Location	chr1:85707254-85707255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85694538..85697394-chr1:85706640..85709318,2	MCF-7	breast:
2	chr1:85706037..85709032-chr1:85723528..85726746,4	K562	blood:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59248240	0.96[ASN][1000 genomes]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85705200-85707800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:85705600-85707800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:85706000-85707400	Enhancers	Fetal Stomach	stomach
5	chr1:85706000-85709000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:85706200-85707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:85706400-85709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:85706400-85710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:85706400-85710000	Weak transcription	NH-A	brain
11	chr1:85706600-85709200	Weak transcription	Fetal Heart	heart
12	chr1:85706600-85709200	Weak transcription	HSMM	muscle
13	chr1:85706600-85710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:85706600-85716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:85706600-85716000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:85706600-85716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:85706800-85707800	Enhancers	Pancreas	Pancrea
18	chr1:85706800-85709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:85706800-85709000	Weak transcription	Adipose Nuclei	Adipose
20	chr1:85706800-85710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:85706800-85716000	Weak transcription	Primary T cells from cord blood	blood
22	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:85707000-85707800	Enhancers	Lung	lung
24	chr1:85707000-85709000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:85707000-85709000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:85707000-85709000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:85707000-85709000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:85707000-85709000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:85707000-85709000	Weak transcription	Osteobl	bone
30	chr1:85707000-85709200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:85707000-85715600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:85707000-85716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:85707000-85722800	Weak transcription	HepG2	liver
37	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
38	chr1:85707200-85707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:85707200-85709000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:85707200-85709000	Weak transcription	Fetal Lung	lung
41	chr1:85707200-85709000	Weak transcription	HSMMtube	muscle
42	chr1:85707200-85709600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85707200-85709800	Weak transcription	Dnd41	blood
44	chr1:85707200-85710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:85707200-85710200	Weak transcription	HUVEC	blood vessel
46	chr1:85707200-85710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:85707200-85715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:85707200-85716000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:85707200-85716200	Weak transcription	Primary T cells fromperipheralblood	blood

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