Variant report

Variant	rs2715140
Chromosome Location	chr7:50692711-50692712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50691904..50693711-chr7:51130670..51132568,2	MCF-7	breast:
2	chr7:50687199..50689206-chr7:50691884..50694076,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10486757	1.00[ASN][1000 genomes]
rs17544225	1.00[ASN][1000 genomes]
rs2190499	1.00[ASN][1000 genomes]
rs2190500	1.00[ASN][1000 genomes]
rs2237439	1.00[ASN][1000 genomes]
rs2299151	1.00[ASN][1000 genomes]
rs2299152	1.00[ASN][1000 genomes]
rs3735271	0.83[ASN][1000 genomes]
rs4947710	0.81[ASN][1000 genomes]
rs55834323	0.81[ASN][1000 genomes]
rs73131006	0.81[ASN][1000 genomes]
rs73131008	0.81[ASN][1000 genomes]
rs73131013	0.83[ASN][1000 genomes]
rs73131015	0.83[ASN][1000 genomes]
rs73131078	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	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
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
5	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50682200-50694200	Weak transcription	Fetal Brain Female	brain
10	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:50682400-50695200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:50682400-50695800	Weak transcription	NHLF	lung
15	chr7:50682600-50693800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:50682600-50695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
20	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:50683000-50695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:50683000-50700400	Weak transcription	A549	lung
27	chr7:50683400-50693800	Weak transcription	Gastric	stomach
28	chr7:50683400-50695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
30	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:50684000-50695400	Weak transcription	HepG2	liver
32	chr7:50684200-50698400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:50684400-50693800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:50684600-50693800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:50684600-50695400	Weak transcription	HSMM	muscle
36	chr7:50684600-50695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:50684800-50693200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:50684800-50693800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:50684800-50695800	Weak transcription	Fetal Intestine Large	intestine
40	chr7:50685200-50700800	Weak transcription	Osteobl	bone
41	chr7:50685400-50693200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:50685400-50693200	Weak transcription	Brain Anterior Caudate	brain
43	chr7:50685800-50692800	Weak transcription	NH-A	brain
44	chr7:50685800-50693200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:50685800-50695800	Weak transcription	Fetal Lung	lung
46	chr7:50686200-50693200	Weak transcription	Hela-S3	cervix
47	chr7:50686200-50694000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:50686200-50694200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:50686200-50694200	Weak transcription	Primary T cells from cord blood	blood
50	chr7:50686400-50693200	Weak transcription	HSMMtube	muscle

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