Variant report

Variant	rs13311390
Chromosome Location	chr7:50782919-50782920
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	RCOR1	chr7:50782660-50782972	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr7:50782467-50783197	Hela-S3	cervix:	n/a	n/a
3	FOS	chr7:50782469-50782940	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:50782457-50782943	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:50782535-50782943	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:50782440-50783093	K562	blood:	n/a	n/a
7	CEBPB	chr7:50782478-50782992	Hela-S3	cervix:	n/a	n/a
8	MYC	chr7:50782469-50782920	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr7:50782577-50782919	MCF10A-Er-Src	breast:	n/a	chr7:50782687-50782694
10	MYC	chr7:50782433-50782972	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr7:50782532-50782925	MCF10A-Er-Src	breast:	n/a	chr7:50782687-50782694
12	SMC3	chr7:50782540-50782955	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr7:50782581-50782945	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr7:50782539-50783178	Hela-S3	cervix:	n/a	chr7:50782904-50782913 chr7:50782905-50782912
15	MAX	chr7:50782551-50782995	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr7:50782476-50782925	MCF10A-Er-Src	breast:	n/a	chr7:50782687-50782694
17	TFAP2A	chr7:50782514-50783068	Hela-S3	cervix:	n/a	chr7:50782879-50782889 chr7:50782879-50782889 chr7:50782874-50782889 chr7:50782879-50782889 chr7:50782879-50782889

No.	Distal block	Cell Line	Cell type
1	chr7:50781516..50783338-chr7:50785082..50786881,2	K562	blood:
2	chr7:50772725..50774858-chr7:50781132..50783055,2	K562	blood:
3	chr7:50780419..50783049-chr7:50792593..50795641,3	K562	blood:
4	chr7:50781098..50783025-chr7:50791661..50794093,2	K562	blood:
5	chr7:50782071..50785777-chr7:50859330..50862743,3	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1014384	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs1019000	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.92[ASN][1000 genomes]
rs1024531	0.92[ASN][1000 genomes]
rs10265504	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10486761	0.90[JPT][hapmap]
rs11238297	0.82[ASN][1000 genomes]
rs11238326	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs11238337	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs11763072	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763778	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765762	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983539	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs12536500	0.83[YRI][hapmap]
rs12668316	0.96[ASN][1000 genomes]
rs2058014	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074777	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2108349	0.82[ASN][1000 genomes]
rs2190502	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2214963	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237490	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299153	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329489	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801000	0.92[ASN][1000 genomes]
rs4521715	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4947806	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593164	0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap]
rs6593174	0.85[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs6943153	0.84[ASW][hapmap];0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6943901	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs6963498	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs6967612	0.84[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6971834	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs6979369	0.90[JPT][hapmap]
rs757773	0.90[JPT][hapmap]
rs757774	0.87[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs7782797	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs7786917	0.85[JPT][hapmap]
rs7793570	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7809623	0.95[ASN][1000 genomes]
rs7809775	0.88[ASN][1000 genomes]
rs933360	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
5	chr7:50772000-50791600	Weak transcription	K562	blood
6	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:50774800-50789200	Weak transcription	NHLF	lung
11	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
12	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
14	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:50778800-50783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:50778800-50786800	Enhancers	Right Atrium	heart
18	chr7:50779400-50783200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:50779400-50786000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:50780400-50786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:50780400-50788400	Enhancers	Pancreas	Pancrea
22	chr7:50780600-50784400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:50780600-50786400	Weak transcription	Osteobl	bone
24	chr7:50780600-50786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:50780800-50785400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:50781000-50784400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:50781000-50786000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:50781000-50786400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:50781000-50787200	Enhancers	Lung	lung
33	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:50781200-50783200	Weak transcription	Fetal Stomach	stomach
35	chr7:50781200-50783400	Enhancers	Placenta	Placenta
36	chr7:50781200-50784600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:50781200-50786000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:50781200-50789200	Weak transcription	Colonic Mucosa	Colon
39	chr7:50781200-50791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:50781200-50795600	Weak transcription	NHDF-Ad	bronchial
41	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
42	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:50781400-50783200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:50781400-50785800	Weak transcription	Fetal Lung	lung
45	chr7:50781400-50786400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:50781400-50789400	Weak transcription	Ovary	ovary
47	chr7:50781600-50783000	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:50781600-50785400	Weak transcription	Brain Anterior Caudate	brain
49	chr7:50781600-50785600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:50781600-50786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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