Variant report

Variant	rs12563470
Chromosome Location	chr1:57014990-57014991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:57010110..57012912-chr1:57012991..57015582,3	K562	blood:
2	chr1:56879071..56881393-chr1:57012457..57015249,2	MCF-7	breast:
3	chr1:57010225..57012912-chr1:57013019..57015582,2	K562	blood:

Variant related genes	Relation type
ENSG00000223956	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12063481	1.00[JPT][hapmap]
rs12075340	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:57001200-57018800	Weak transcription	A549	lung
3	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
4	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
6	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:57008600-57015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
12	chr1:57010400-57019200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:57010400-57019600	Enhancers	Right Ventricle	heart
14	chr1:57010600-57017200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:57011000-57017200	Enhancers	Brain Anterior Caudate	brain
16	chr1:57011000-57020200	Enhancers	Brain Hippocampus Middle	brain
17	chr1:57011600-57015000	Weak transcription	Aorta	Aorta
18	chr1:57011600-57016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:57011800-57015600	Weak transcription	Fetal Stomach	stomach
20	chr1:57011800-57018000	Enhancers	Brain Substantia Nigra	brain
21	chr1:57012000-57016800	Enhancers	HepG2	liver
22	chr1:57012000-57017000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:57012000-57017000	Weak transcription	Spleen	Spleen
24	chr1:57012200-57017800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:57012400-57017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:57012600-57019200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:57012600-57019600	Enhancers	Brain Angular Gyrus	brain
28	chr1:57012600-57020000	Enhancers	Adipose Nuclei	Adipose
29	chr1:57012800-57015200	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr1:57012800-57016000	Enhancers	HSMMtube	muscle
31	chr1:57012800-57017000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:57013000-57015000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:57013000-57015000	Enhancers	Left Ventricle	heart
34	chr1:57013000-57016800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:57013000-57017800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:57013000-57019400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:57013000-57019400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr1:57013000-57019400	Enhancers	Psoas Muscle	Psoas
39	chr1:57013000-57019800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:57013000-57020000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:57013200-57015200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:57013200-57015600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:57013200-57015800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:57013200-57017000	Weak transcription	Fetal Brain Female	brain
45	chr1:57013200-57017800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:57013200-57017800	Enhancers	Right Atrium	heart
47	chr1:57013200-57018000	Enhancers	Ovary	ovary
48	chr1:57013200-57019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:57013200-57021000	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:57013400-57017800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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