Variant report

Variant	rs73349045
Chromosome Location	chr7:50780971-50780972
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	ZNF263	chr7:50780799-50781559	HEK293-T-REx	kidney:	n/a	chr7:50780957-50780978
2	POLR2A	chr7:50780772-50781623	K562	blood:	n/a	n/a
3	RCOR1	chr7:50780891-50781009	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50780419..50783049-chr7:50792593..50795641,3	K562	blood:
2	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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2329493	0.83[AMR][1000 genomes]
rs55677734	0.83[AMR][1000 genomes]
rs59781518	0.83[AMR][1000 genomes]
rs61635288	0.90[AMR][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:88 , 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	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
12	chr7:50774600-50782400	Weak transcription	HMEC	breast
13	chr7:50774800-50789200	Weak transcription	NHLF	lung
14	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
15	chr7:50776800-50781200	Weak transcription	Stomach Mucosa	stomach
16	chr7:50777000-50781800	Enhancers	Psoas Muscle	Psoas
17	chr7:50777600-50781200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:50778000-50781600	Enhancers	Colon Smooth Muscle	Colon
20	chr7:50778400-50781000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:50778400-50781200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:50778400-50781800	Enhancers	Liver	Liver
23	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
24	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:50778600-50781200	Enhancers	HSMMtube	muscle
26	chr7:50778600-50781800	Enhancers	Fetal Heart	heart
27	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:50778800-50781000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:50778800-50781000	Enhancers	A549	lung
30	chr7:50778800-50781000	Enhancers	Hela-S3	cervix
31	chr7:50778800-50781200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:50778800-50781200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:50778800-50781400	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:50778800-50782000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:50778800-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:50778800-50783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:50778800-50786800	Enhancers	Right Atrium	heart
38	chr7:50779000-50781000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:50779000-50781400	Enhancers	Brain Hippocampus Middle	brain
40	chr7:50779000-50781400	Enhancers	Ovary	ovary
41	chr7:50779200-50781000	Enhancers	Brain Angular Gyrus	brain
42	chr7:50779200-50781200	Enhancers	Fetal Brain Male	brain
43	chr7:50779200-50781200	Enhancers	Fetal Stomach	stomach
44	chr7:50779200-50781800	Enhancers	Spleen	Spleen
45	chr7:50779200-50782600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:50779400-50781000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:50779400-50781000	Weak transcription	Esophagus	oesophagus
48	chr7:50779400-50781000	Enhancers	Fetal Kidney	kidney
49	chr7:50779400-50781200	Weak transcription	Placenta	Placenta
50	chr7:50779400-50781800	Enhancers	Cortex derived primary cultured neurospheres	brain

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