Variant report

Variant	rs920608
Chromosome Location	chr4:77138460-77138461
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:77138407-77138660	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr4:77138400-77138900	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:77138080-77138745	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:77138421-77138496	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
2	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
3	chr4:77132690..77134987-chr4:77135558..77138954,3	K562	blood:

Variant related genes	Relation type
SCARB2	TF binding region
FAM47E	TF binding region
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction

rs_ID	r²[population]
rs1465923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4282210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77135600-77138600	Weak transcription	Ovary	ovary
2	chr4:77135600-77138800	Enhancers	Placenta	Placenta
3	chr4:77135800-77138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:77135800-77139000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:77135800-77139800	Weak transcription	Osteobl	bone
6	chr4:77135800-77140000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:77135800-77141000	Enhancers	Psoas Muscle	Psoas
8	chr4:77135800-77142200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:77135800-77147400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:77136000-77138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:77136000-77138600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:77136000-77139400	Enhancers	Fetal Muscle Leg	muscle
13	chr4:77136000-77139800	Weak transcription	A549	lung
14	chr4:77136000-77140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:77136000-77140000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:77136000-77140400	Weak transcription	NHDF-Ad	bronchial
17	chr4:77136000-77140400	Weak transcription	NHLF	lung
18	chr4:77136000-77140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:77136000-77142400	Enhancers	Fetal Intestine Large	intestine
20	chr4:77136000-77150600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:77136200-77139000	Enhancers	HepG2	liver
22	chr4:77136200-77140200	Weak transcription	Right Atrium	heart
23	chr4:77136200-77142400	Enhancers	Liver	Liver
24	chr4:77136400-77138800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:77136400-77139000	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:77136400-77140000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:77136400-77140000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:77136400-77140200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:77136400-77140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:77136400-77140400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:77136400-77140400	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:77136400-77140600	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:77136400-77141000	Enhancers	Fetal Lung	lung
34	chr4:77136600-77140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:77136600-77141000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:77136600-77142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:77136600-77143200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:77136800-77140600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:77137200-77138600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr4:77137200-77140800	Weak transcription	Colonic Mucosa	Colon
41	chr4:77137200-77142400	Enhancers	Fetal Intestine Small	intestine
42	chr4:77137400-77138600	Weak transcription	Lung	lung
43	chr4:77137400-77139000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:77137400-77140200	Weak transcription	Esophagus	oesophagus
45	chr4:77137600-77138800	Enhancers	Stomach Mucosa	stomach
46	chr4:77138000-77138600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:77138000-77138600	Weak transcription	Small Intestine	intestine
48	chr4:77138000-77138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:77138000-77138800	Enhancers	Fetal Heart	heart
50	chr4:77138000-77139000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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