Variant report

Variant	rs7575516
Chromosome Location	chr2:187513281-187513282
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	chr2:187512598..187514600-chr2:187521412..187523293,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11678190	0.84[EUR][1000 genomes]
rs11685758	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12151442	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12615659	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12998294	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13001028	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13006483	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13016261	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13027560	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13028817	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1448424	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17334303	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1839121	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1839123	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1839124	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084448	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34483988	0.85[EUR][1000 genomes]
rs34980163	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35251833	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3816386	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56136540	0.93[ASN][1000 genomes]
rs6748509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753438	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7419327	0.81[ASN][1000 genomes]
rs7589470	0.93[ASN][1000 genomes]
rs9333289	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9333290	0.82[AMR][1000 genomes];0.93[EUR][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
3	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
6	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:187462800-187515400	Weak transcription	Gastric	stomach
8	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:187465800-187529200	Weak transcription	Dnd41	blood
10	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
11	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
14	chr2:187476000-187519800	Weak transcription	K562	blood
15	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
16	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
23	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:187486600-187531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:187489400-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:187493800-187529200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:187494200-187529200	Weak transcription	Brain Germinal Matrix	brain
28	chr2:187494200-187535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:187494800-187531800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:187495000-187534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:187500000-187519800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:187500200-187513400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:187500600-187515800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:187502800-187516400	Weak transcription	HMEC	breast
36	chr2:187502800-187533000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:187503400-187545000	Weak transcription	Hela-S3	cervix
38	chr2:187504200-187529400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:187504800-187519800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:187505400-187522200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:187505400-187533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:187505600-187527600	Weak transcription	Fetal Heart	heart
43	chr2:187505800-187528800	Weak transcription	Stomach Mucosa	stomach
44	chr2:187506000-187513600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:187506400-187519800	Weak transcription	Right Ventricle	heart
46	chr2:187506400-187520000	Weak transcription	Fetal Kidney	kidney
47	chr2:187506600-187529600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:187506600-187533400	Weak transcription	NHLF	lung
49	chr2:187506600-187537000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:187506800-187519600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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