Variant report

Variant	rs5001149
Chromosome Location	chr8:49462954-49462955
allele	G/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	NFIC	chr8:49462941-49463285	GM12878	blood:	n/a	n/a
2	CTCF	chr8:49462860-49463010	GM12864	blood:	n/a	n/a
3	ATF2	chr8:49462919-49463331	GM12878	blood:	n/a	n/a
4	ATF2	chr8:49462828-49463363	GM12878	blood:	n/a	n/a
5	IRF4	chr8:49462897-49463365	GM12878	blood:	n/a	chr8:49463139-49463153
6	BATF	chr8:49462833-49463358	GM12878	blood:	n/a	n/a
7	NFIC	chr8:49462889-49463436	GM12878	blood:	n/a	n/a
8	RUNX3	chr8:49462905-49463377	GM12878	blood:	n/a	n/a
9	FOXM1	chr8:49462924-49463337	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253608	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10087280	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10087665	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10092171	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10094801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097989	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098707	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10110147	0.84[EUR][1000 genomes]
rs10110839	0.84[EUR][1000 genomes]
rs10282993	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957175	0.83[JPT][hapmap]
rs1160606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774421	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11985324	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11992271	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11995181	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11997525	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1393550	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16937564	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16937767	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16937921	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16938118	0.83[JPT][hapmap]
rs1910252	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1976450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2200083	0.84[JPT][hapmap]
rs2200084	0.89[JPT][hapmap]
rs2384925	0.83[JPT][hapmap]
rs28507516	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28689821	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2891639	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2891641	0.83[JPT][hapmap]
rs55851597	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57846507	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981394	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990833	0.83[JPT][hapmap]
rs6998738	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016759	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72639043	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7817656	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7825135	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs868444	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs931764	0.84[EUR][1000 genomes]
rs970214	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49455800-49467800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:49456400-49463400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:49457000-49467000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:49457200-49465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:49457200-49466200	Weak transcription	Fetal Kidney	kidney
6	chr8:49457400-49463400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:49457600-49463400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:49457600-49467400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:49457600-49468600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:49458600-49466800	Weak transcription	Pancreas	Pancrea
11	chr8:49461600-49463800	Enhancers	Fetal Brain Female	brain
12	chr8:49461800-49464400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:49461800-49468000	Enhancers	Fetal Muscle Leg	muscle
14	chr8:49461800-49469000	Enhancers	Fetal Brain Male	brain
15	chr8:49462000-49464000	Enhancers	Fetal Stomach	stomach
16	chr8:49462000-49464400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:49462000-49468000	Enhancers	Ovary	ovary
18	chr8:49462200-49464600	Enhancers	Fetal Lung	lung
19	chr8:49462200-49464800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:49462400-49463600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:49462400-49463600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:49462400-49464400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:49462400-49464400	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:49462600-49463600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:49462600-49463800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:49462600-49464000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:49462600-49464600	Bivalent Enhancer	Fetal Heart	heart
28	chr8:49462600-49468200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:49462800-49463000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:49462800-49463000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:49462800-49463000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:49462800-49463000	Enhancers	Aorta	Aorta
33	chr8:49462800-49463000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr8:49462800-49463000	Enhancers	Right Ventricle	heart
35	chr8:49462800-49463200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:49462800-49463200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:49462800-49463200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:49462800-49463200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:49462800-49463400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:49462800-49463600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:49462800-49463800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:49462800-49463800	Enhancers	Brain Germinal Matrix	brain
43	chr8:49462800-49463800	Enhancers	Esophagus	oesophagus
44	chr8:49462800-49464000	Enhancers	Left Ventricle	heart
45	chr8:49462800-49464000	Enhancers	Right Atrium	heart
46	chr8:49462800-49464000	Enhancers	Spleen	Spleen
47	chr8:49462800-49464000	Enhancers	NHLF	lung
48	chr8:49462800-49464200	Enhancers	NH-A	brain
49	chr8:49462800-49464200	Enhancers	NHDF-Ad	bronchial
50	chr8:49462800-49464400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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