Variant report

Variant	rs73125594
Chromosome Location	chr5:75974475-75974476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75973826..75975865-chr5:76141935..76143640,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2227748	1.00[AMR][1000 genomes]
rs2227782	1.00[AMR][1000 genomes]
rs2227796	1.00[AMR][1000 genomes]
rs58133545	1.00[AMR][1000 genomes]
rs73125568	1.00[AMR][1000 genomes]
rs73127570	1.00[AMR][1000 genomes]
rs73129610	1.00[AMR][1000 genomes]
rs73129621	1.00[AMR][1000 genomes]
rs73129622	1.00[AMR][1000 genomes]
rs73129664	1.00[AMR][1000 genomes]
rs73131635	1.00[AMR][1000 genomes]
rs73131647	1.00[AMR][1000 genomes]
rs7713797	1.00[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75943800-75986600	Weak transcription	Gastric	stomach
2	chr5:75945200-75976200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:75945200-75976400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:75945600-75976600	Strong transcription	Liver	Liver
6	chr5:75946200-75976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:75946600-75975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:75947800-75981800	Strong transcription	Primary T cells from cord blood	blood
10	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:75948000-75976200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:75948000-75976200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:75948000-75976400	Strong transcription	Placenta	Placenta
14	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:75949200-75986600	Weak transcription	GM12878-XiMat	blood
16	chr5:75950800-75999400	Weak transcription	Ovary	ovary
17	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:75952800-75975400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:75953000-75975400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:75953400-75986000	Weak transcription	Spleen	Spleen
21	chr5:75955000-75980800	Weak transcription	Lung	lung
22	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:75955400-75980400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:75956800-75975000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:75956800-75984200	Weak transcription	Fetal Kidney	kidney
26	chr5:75957600-75975400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:75960200-75976200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:75963400-75987400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:75963800-75980600	Weak transcription	K562	blood
30	chr5:75965000-75974600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:75965000-75974800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:75965000-75975000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:75965800-75986600	Weak transcription	Colonic Mucosa	Colon
34	chr5:75967000-75980600	Weak transcription	Pancreas	Pancrea
35	chr5:75967000-75991200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:75967600-75975000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:75967800-75977000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:75968600-75979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:75969200-75977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:75969400-75976600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:75969400-75979600	Weak transcription	Fetal Intestine Large	intestine
42	chr5:75969600-75978400	Weak transcription	Fetal Intestine Small	intestine
43	chr5:75969800-75986600	Weak transcription	Stomach Mucosa	stomach
44	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:75970000-75976600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:75970400-75975600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:75970800-75975400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:75971200-75991000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:75971400-75986600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:75971400-75991200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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