Variant report

Variant	rs62465753
Chromosome Location	chr7:66391082-66391083
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	EBF1	chr7:66391046-66391309	GM12878	blood:	n/a	chr7:66391199-66391210 chr7:66391157-66391168
2	GATA3	chr7:66391037-66391233	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr7:66391014-66391122	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66390801..66392504-chr7:66394025..66395897,2	K562	blood:
2	chr7:66385788..66388541-chr7:66389275..66392826,4	MCF-7	breast:
3	chr7:65958803..65960399-chr7:66390332..66392925,2	K562	blood:
4	chr7:66390822..66393566-chr7:66398113..66400067,2	K562	blood:
5	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10232188	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10234322	0.94[AFR][1000 genomes]
rs10235334	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10235423	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235638	0.91[AFR][1000 genomes]
rs10236124	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237309	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241528	0.94[AFR][1000 genomes]
rs10247591	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250124	0.94[AFR][1000 genomes]
rs10250831	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263993	0.88[AFR][1000 genomes]
rs10264223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10264873	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10266792	0.85[AFR][1000 genomes]
rs10267922	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10269487	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10270138	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10275343	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10275956	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10279240	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281090	0.82[AFR][1000 genomes]
rs10281794	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479729	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12531365	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12532805	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532843	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12533298	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533724	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12534948	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12536003	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537176	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537474	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12538038	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540371	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1589887	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17138017	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17680606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17748115	0.85[AFR][1000 genomes]
rs2077180	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2091315	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293350	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28501161	0.85[AFR][1000 genomes]
rs28510688	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28524571	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28590087	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641990	0.85[AFR][1000 genomes]
rs28729561	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778914	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778916	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4382352	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617036	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717326	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56743740	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59765110	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61554495	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465677	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465679	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465704	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465717	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62465731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62465735	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62465746	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62465749	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62465751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62466580	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73140000	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143914	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73143998	0.94[AFR][1000 genomes]
rs73151646	0.85[AFR][1000 genomes]
rs7777631	0.94[AFR][1000 genomes]
rs7785755	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387400-66395000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66387400-66395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66387600-66393400	Weak transcription	Fetal Heart	heart
4	chr7:66387600-66394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:66387600-66394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:66387600-66394800	Weak transcription	Esophagus	oesophagus
7	chr7:66387600-66395000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:66387600-66395200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66387600-66395200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:66387600-66407200	Weak transcription	NH-A	brain
11	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
12	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:66387800-66391200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:66387800-66391800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:66387800-66397200	Weak transcription	Osteobl	bone
16	chr7:66388000-66391600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:66388000-66394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:66388200-66391400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:66388200-66392200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66388200-66393400	Weak transcription	HMEC	breast
21	chr7:66388200-66395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:66388200-66406800	Weak transcription	NHLF	lung
23	chr7:66388400-66393400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:66388400-66394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
26	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:66388600-66391400	Strong transcription	GM12878-XiMat	blood
29	chr7:66388600-66392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:66388600-66394600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:66388600-66395000	Strong transcription	NHEK	skin
32	chr7:66388600-66395400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:66388600-66396000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:66388600-66398000	Weak transcription	Placenta	Placenta
35	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
36	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
38	chr7:66388800-66391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:66388800-66394000	Weak transcription	Colonic Mucosa	Colon
40	chr7:66388800-66395200	Weak transcription	Brain Substantia Nigra	brain
41	chr7:66388800-66395600	Weak transcription	Ovary	ovary
42	chr7:66389000-66391200	Weak transcription	Brain Anterior Caudate	brain
43	chr7:66389000-66391600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:66389000-66391800	Weak transcription	Pancreas	Pancrea
45	chr7:66389000-66392600	Weak transcription	Spleen	Spleen
46	chr7:66389000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:66389000-66392800	Weak transcription	Gastric	stomach
48	chr7:66389000-66392800	Weak transcription	Right Ventricle	heart
49	chr7:66389000-66393800	Weak transcription	Left Ventricle	heart
50	chr7:66389000-66394200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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