Variant report

Variant	rs73689251
Chromosome Location	chr7:39689676-39689677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39687898..39690458-chr7:39703472..39705888,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723890	1.00[EUR][1000 genomes]
rs4723896	0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949371	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963428	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[EUR][1000 genomes]
rs7789326	0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39666200-39694400	Weak transcription	Fetal Brain Female	brain
2	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney
3	chr7:39671800-39693800	Weak transcription	A549	lung
4	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
5	chr7:39674000-39690200	Weak transcription	NH-A	brain
6	chr7:39674000-39690800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:39674200-39690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:39674200-39691400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:39674200-39696000	Weak transcription	Thymus	Thymus
10	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:39675600-39701400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:39675800-39691600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:39676600-39690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:39676600-39694400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:39676600-39694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:39676600-39694400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:39677400-39694200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:39678800-39694400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:39679600-39695800	Weak transcription	Primary B cells from cord blood	blood
20	chr7:39680000-39700800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:39680000-39701000	Weak transcription	Esophagus	oesophagus
22	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:39680800-39704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:39682000-39700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:39682000-39704000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:39682000-39704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:39682400-39694400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:39682400-39700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:39682600-39696000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:39682600-39702600	Weak transcription	Gastric	stomach
32	chr7:39682800-39690200	Weak transcription	Stomach Mucosa	stomach
33	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:39683400-39689800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:39683400-39701200	Weak transcription	Lung	lung
36	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:39683600-39690200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:39683600-39696600	Weak transcription	Pancreas	Pancrea
39	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:39684000-39690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:39684000-39694600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:39684400-39689800	Weak transcription	Osteobl	bone
43	chr7:39684600-39690200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:39684600-39690400	Weak transcription	NHEK	skin
45	chr7:39685000-39689800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:39685400-39693200	Weak transcription	HMEC	breast
47	chr7:39685600-39690800	Weak transcription	Fetal Lung	lung
48	chr7:39686200-39690400	Weak transcription	Ovary	ovary
49	chr7:39686200-39690400	Weak transcription	Right Ventricle	heart
50	chr7:39686200-39690800	Weak transcription	HepG2	liver

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