Variant report

Variant	rs4947804
Chromosome Location	chr7:50780091-50780092
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	chr7:50779894-50780094	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50771946..50774688-chr7:50777766..50780192,2	K562	blood:
2	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:
3	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1004402	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1019002	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216232	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1024532	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2011899	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108350	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190501	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190503	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237469	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237481	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237488	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301926	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2301927	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2329492	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2529400	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2529404	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2529407	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2529409	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2715102	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2715105	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2715110	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2715118	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715125	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2715128	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2715134	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800999	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947432	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4947444	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947446	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947835	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947836	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947837	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947842	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947866	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4947886	0.83[AMR][1000 genomes]
rs4947890	0.83[AMR][1000 genomes]
rs4947891	0.83[AMR][1000 genomes]
rs6593140	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6593142	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6593171	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6945302	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6973119	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978627	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757775	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs886821	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs962508	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977791	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs990358	0.83[EUR][1000 genomes];0.90[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:92 , 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	chr7:50771600-50780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:50772000-50791600	Weak transcription	K562	blood
7	chr7:50773000-50780400	Weak transcription	Fetal Brain Female	brain
8	chr7:50773000-50780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:50774400-50780200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
16	chr7:50774600-50782400	Weak transcription	HMEC	breast
17	chr7:50774800-50789200	Weak transcription	NHLF	lung
18	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
19	chr7:50776800-50781200	Weak transcription	Stomach Mucosa	stomach
20	chr7:50777000-50780200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:50777000-50781800	Enhancers	Psoas Muscle	Psoas
22	chr7:50777200-50780800	Weak transcription	Gastric	stomach
23	chr7:50777600-50781200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:50777800-50780800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:50778000-50781600	Enhancers	Colon Smooth Muscle	Colon
27	chr7:50778400-50780200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:50778400-50781000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:50778400-50781200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:50778400-50781800	Enhancers	Liver	Liver
31	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
32	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:50778600-50781200	Enhancers	HSMMtube	muscle
34	chr7:50778600-50781800	Enhancers	Fetal Heart	heart
35	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:50778800-50780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50778800-50780200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:50778800-50780600	Enhancers	HSMM	muscle
39	chr7:50778800-50781000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:50778800-50781000	Enhancers	A549	lung
41	chr7:50778800-50781000	Enhancers	Hela-S3	cervix
42	chr7:50778800-50781200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:50778800-50781200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:50778800-50781400	Enhancers	Rectal Smooth Muscle	rectum
45	chr7:50778800-50782000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:50778800-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:50778800-50783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:50778800-50786800	Enhancers	Right Atrium	heart
49	chr7:50779000-50780200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:50779000-50780200	Enhancers	Adipose Nuclei	Adipose

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