Variant report

Variant	rs1363053
Chromosome Location	chr7:138235643-138235644
allele	C/G
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	chr7:138233620-138239073	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:138233708-138236312	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138233250..138235909-chr7:138241361..138243581,2	K562	blood:
2	chr7:138231426..138233199-chr7:138233874..138236818,2	K562	blood:

Variant related genes	Relation type
TRIM24	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10155993	0.89[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs10215281	0.95[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs10227693	0.95[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10247380	0.95[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10248731	0.94[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030961	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs1077772	0.89[CEU][hapmap];0.84[JPT][hapmap]
rs11976614	0.84[JPT][hapmap]
rs1421604	0.94[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs1544733	0.94[CEU][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1673203	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673205	0.85[JPT][hapmap]
rs1813003	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874326	0.89[CEU][hapmap];0.84[JPT][hapmap]
rs3757381	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs3807155	0.84[JPT][hapmap]
rs3807156	0.94[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs3816192	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6467775	0.82[ASN][1000 genomes]
rs6467776	0.80[AMR][1000 genomes]
rs6467778	0.94[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs6467780	0.94[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs6467782	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467783	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6944764	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6948094	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6954285	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6959574	0.95[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs728092	0.80[ASN][1000 genomes]
rs7798391	0.91[CHB][hapmap]
rs7808392	0.85[AMR][1000 genomes]
rs9791634	0.85[JPT][hapmap]
rs985299	0.95[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138235800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:138213000-138235800	Weak transcription	Pancreas	Pancrea
3	chr7:138213000-138235800	Weak transcription	NHDF-Ad	bronchial
4	chr7:138213000-138235800	Weak transcription	Osteobl	bone
5	chr7:138213000-138236800	Weak transcription	HSMMtube	muscle
6	chr7:138213000-138238600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
8	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:138213200-138235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:138213200-138235800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:138213200-138236000	Weak transcription	Right Ventricle	heart
12	chr7:138214600-138235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:138214600-138235800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:138214600-138235800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:138215800-138235800	Weak transcription	Spleen	Spleen
16	chr7:138216200-138235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:138219800-138236800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:138220000-138235800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:138220200-138240400	Weak transcription	Psoas Muscle	Psoas
20	chr7:138220600-138237200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:138220800-138238400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr7:138220800-138238400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:138221000-138237000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:138222000-138236800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:138222000-138238400	Weak transcription	Esophagus	oesophagus
27	chr7:138222000-138238400	Weak transcription	Gastric	stomach
28	chr7:138222200-138236800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:138222200-138238400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:138222200-138239400	Strong transcription	Fetal Thymus	thymus
31	chr7:138222400-138239400	Strong transcription	K562	blood
32	chr7:138223600-138235800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:138223600-138235800	Weak transcription	Brain Substantia Nigra	brain
34	chr7:138223800-138235800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:138224200-138235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:138224200-138236800	Weak transcription	Small Intestine	intestine
37	chr7:138224400-138239400	Weak transcription	Stomach Mucosa	stomach
38	chr7:138224600-138235800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:138224800-138235800	Weak transcription	HMEC	breast
40	chr7:138225400-138236000	Weak transcription	NH-A	brain
41	chr7:138225400-138242000	Weak transcription	A549	lung
42	chr7:138225600-138235800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:138226600-138235800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:138227000-138235800	Weak transcription	Placenta	Placenta
45	chr7:138227000-138241200	Weak transcription	Hela-S3	cervix
46	chr7:138227200-138235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:138227200-138235800	Weak transcription	Brain Anterior Caudate	brain
48	chr7:138227400-138235800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:138227400-138235800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:138227800-138235800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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