Variant report

Variant	rs7001481
Chromosome Location	chr8:49433989-49433990
allele	C/T
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	EP300	chr8:49433917-49434067	GM12878	blood:	n/a	chr8:49433985-49433995
2	MEF2A	chr8:49433738-49434141	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:49433635-49434181	HL-60	blood:	n/a	n/a
4	RUNX3	chr8:49433621-49434179	GM12878	blood:	n/a	chr8:49433927-49433942
5	RUNX3	chr8:49433654-49434170	GM12878	blood:	n/a	chr8:49433927-49433942
6	POLR2A	chr8:49433620-49434224	HL-60	blood:	n/a	n/a
7	MEF2C	chr8:49433728-49434121	GM12878	blood:	n/a	chr8:49433940-49433955

No.	Distal block	Cell Line	Cell type
1	chr8:49426044..49428743-chr8:49433288..49436593,3	K562	blood:
2	chr8:49425584..49432430-chr8:49432984..49438812,10	MCF-7	breast:
3	chr8:49425999..49428743-chr8:49432404..49436593,3	K562	blood:

Variant related genes	Relation type
ENSG00000253140	TF binding region
ENSG00000253140	Chromatin interaction

rs_ID	r²[population]
rs1502650	0.85[AFR][1000 genomes]
rs16937469	0.85[AFR][1000 genomes]
rs16937529	0.85[AFR][1000 genomes]
rs16937537	0.85[AFR][1000 genomes]
rs16937605	1.00[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16937608	0.85[AFR][1000 genomes]
rs16937632	0.85[AFR][1000 genomes]
rs16937638	0.85[AFR][1000 genomes]
rs16937670	0.85[AFR][1000 genomes]
rs57100592	0.85[AFR][1000 genomes]
rs58848984	0.85[AFR][1000 genomes]
rs6982845	0.85[AFR][1000 genomes]
rs6987372	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7009677	0.85[AFR][1000 genomes]
rs7013151	0.85[AFR][1000 genomes]
rs73678291	0.85[AFR][1000 genomes]
rs73678294	0.85[AFR][1000 genomes]
rs73678297	0.85[AFR][1000 genomes]
rs73678300	0.85[AFR][1000 genomes]
rs73678301	0.93[AFR][1000 genomes]
rs73680903	0.85[AFR][1000 genomes]
rs7824380	0.85[AFR][1000 genomes]
rs7825573	0.85[AFR][1000 genomes]

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49427800-49435000	Weak transcription	Left Ventricle	heart
2	chr8:49427800-49435000	Weak transcription	Pancreas	Pancrea
3	chr8:49427800-49438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:49428000-49435200	Weak transcription	Aorta	Aorta
5	chr8:49428000-49435200	Weak transcription	Placenta	Placenta
6	chr8:49428000-49435600	Weak transcription	Right Ventricle	heart
7	chr8:49428000-49438400	Weak transcription	Psoas Muscle	Psoas
8	chr8:49428000-49448600	Weak transcription	Right Atrium	heart
9	chr8:49428200-49435600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:49428400-49434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:49428400-49434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:49428400-49438400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:49428600-49434000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:49428800-49435000	Weak transcription	NHLF	lung
15	chr8:49428800-49435200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:49429000-49434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:49429000-49435200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:49429400-49434800	Weak transcription	Fetal Lung	lung
19	chr8:49430000-49435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:49430200-49435800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:49430200-49436000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:49430400-49435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:49430400-49435200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:49431000-49435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:49431600-49434400	Weak transcription	NHDF-Ad	bronchial
26	chr8:49432000-49438800	Enhancers	Fetal Muscle Leg	muscle
27	chr8:49432200-49435600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:49432200-49435800	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:49432600-49435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:49432600-49435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:49432600-49438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:49432600-49438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:49433000-49436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:49433200-49435400	Enhancers	NHEK	skin
35	chr8:49433400-49434200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr8:49433400-49434400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:49433400-49434800	Enhancers	HSMMtube	muscle
38	chr8:49433400-49435000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:49433400-49435400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:49433400-49435400	Enhancers	HMEC	breast
41	chr8:49433400-49435400	Enhancers	HSMM	muscle
42	chr8:49433400-49436000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:49433400-49437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:49433600-49434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:49433600-49434200	Enhancers	GM12878-XiMat	blood
46	chr8:49433600-49434400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr8:49433600-49435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:49433600-49435400	Enhancers	NH-A	brain
49	chr8:49433600-49435800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:49433600-49435800	Enhancers	Osteobl	bone

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