Variant report

Variant	rs71645939
Chromosome Location	chr7:140623712-140623713
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
2	chr7:140621726..140624133-chr7:141216889..141219173,2	K562	blood:
3	chr7:140532465..140534919-chr7:140622566..140624357,2	K562	blood:
4	chr7:140395267..140398426-chr7:140622802..140626309,6	K562	blood:
5	chr7:140621424..140625988-chr7:140712136..140716057,7	K562	blood:
6	chr7:140621424..140625828-chr7:140713150..140716057,6	K562	blood:
7	chr7:140395805..140398704-chr7:140623265..140626329,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240889	Chromatin interaction
ENSG00000090263	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10214960	1.00[AFR][1000 genomes]
rs10226704	0.96[AFR][1000 genomes]
rs10232111	0.88[AFR][1000 genomes]
rs10236138	0.82[AFR][1000 genomes]
rs10241880	0.89[AFR][1000 genomes]
rs10245662	1.00[AFR][1000 genomes]
rs10245907	0.81[AFR][1000 genomes]
rs10252436	1.00[AFR][1000 genomes]
rs10262151	0.85[AFR][1000 genomes]
rs10271621	0.85[AFR][1000 genomes]
rs9886143	0.92[AFR][1000 genomes]
rs9986821	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3422481	chr7:140623508-140626056	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140620200-140625400	Active TSS	GM12878-XiMat	blood
2	chr7:140620800-140625200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:140622000-140625400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:140622200-140623800	Flanking Active TSS	Dnd41	blood
5	chr7:140622200-140625600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:140622400-140623800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:140622400-140624000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:140622600-140623800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:140622600-140624000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr7:140622600-140624000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr7:140622600-140624000	Active TSS	Right Atrium	heart
12	chr7:140622600-140625200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:140622600-140625200	Active TSS	Fetal Intestine Large	intestine
14	chr7:140622600-140625400	Active TSS	Aorta	Aorta
15	chr7:140622600-140625400	Active TSS	Colonic Mucosa	Colon
16	chr7:140622600-140625400	Active TSS	Fetal Brain Female	brain
17	chr7:140622600-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:140622800-140624800	Active TSS	HMEC	breast
19	chr7:140622800-140625200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:140622800-140625400	Active TSS	NHLF	lung
21	chr7:140622800-140625600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:140622800-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:140622800-140625600	Active TSS	K562	blood
24	chr7:140623000-140623800	Flanking Active TSS	HUVEC	blood vessel
25	chr7:140623000-140625000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:140623000-140625200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:140623000-140625200	Active TSS	A549	lung
28	chr7:140623000-140625200	Active TSS	Hela-S3	cervix
29	chr7:140623000-140625400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:140623000-140625600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:140623000-140625600	Active TSS	Brain Anterior Caudate	brain
32	chr7:140623000-140625600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:140623200-140623800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr7:140623200-140623800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:140623200-140623800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:140623200-140623800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:140623200-140623800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:140623200-140623800	Flanking Active TSS	Liver	Liver
39	chr7:140623200-140623800	Flanking Active TSS	Fetal Lung	lung
40	chr7:140623200-140623800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:140623200-140623800	Flanking Active TSS	NH-A	brain
42	chr7:140623200-140624000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:140623200-140624000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr7:140623200-140624000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:140623200-140624000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:140623200-140624000	Active TSS	Fetal Heart	heart
47	chr7:140623200-140625000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:140623200-140625000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:140623200-140625200	Active TSS	Brain Hippocampus Middle	brain
50	chr7:140623200-140625200	Active TSS	Fetal Intestine Small	intestine

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