Variant report

Variant	rs7625494
Chromosome Location	chr3:42545944-42545945
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42529189..42533440-chr3:42542111..42547805,7	MCF-7	breast:
2	chr3:42530093..42535343-chr3:42545492..42550064,6	MCF-7	breast:
3	chr3:42518552..42520973-chr3:42544499..42546784,2	MCF-7	breast:
4	chr3:42543941..42547920-chr3:42554474..42558044,4	K562	blood:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2239499	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2239500	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267534	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267535	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267536	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267537	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267538	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2284132	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28684623	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs450812	0.85[EUR][1000 genomes]
rs58526597	0.96[EUR][1000 genomes]
rs735773	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7635291	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7640893	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs811198	0.85[EUR][1000 genomes]
rs9841214	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42543200-42546200	Active TSS	Rectal Smooth Muscle	rectum
2	chr3:42544000-42546600	Enhancers	Spleen	Spleen
3	chr3:42544400-42546000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:42544600-42546200	Enhancers	Placenta	Placenta
5	chr3:42544600-42546200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr3:42544600-42548800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:42544600-42551600	Weak transcription	Pancreas	Pancrea
8	chr3:42544800-42546000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:42544800-42548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:42544800-42548600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:42544800-42548600	Weak transcription	Esophagus	oesophagus
12	chr3:42544800-42548800	Weak transcription	Left Ventricle	heart
13	chr3:42544800-42548800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:42544800-42550600	Weak transcription	Right Atrium	heart
15	chr3:42545000-42546200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:42545000-42546200	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr3:42545000-42547400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:42545000-42547400	Weak transcription	Right Ventricle	heart
19	chr3:42545000-42547600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:42545000-42548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:42545000-42548600	Weak transcription	Liver	Liver
22	chr3:42545000-42548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:42545000-42549800	Weak transcription	Small Intestine	intestine
24	chr3:42545200-42546200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
25	chr3:42545200-42546600	Active TSS	Adipose Nuclei	Adipose
26	chr3:42545200-42547000	Active TSS	Lung	lung
27	chr3:42545200-42547000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr3:42545200-42547600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:42545200-42548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:42545200-42548800	Weak transcription	NHEK	skin
31	chr3:42545400-42546000	Enhancers	Brain Anterior Caudate	brain
32	chr3:42545400-42546800	Enhancers	K562	blood
33	chr3:42545400-42547400	Enhancers	Stomach Mucosa	stomach
34	chr3:42545400-42549000	Enhancers	Primary T cells from cord blood	blood
35	chr3:42545400-42551400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:42545400-42553800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:42545600-42546200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:42545600-42546600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:42545600-42547000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:42545600-42547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:42545600-42548600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:42545600-42548600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:42545600-42548800	Weak transcription	Gastric	stomach
44	chr3:42545600-42550200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr3:42545800-42546000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr3:42545800-42546400	Active TSS	Colonic Mucosa	Colon
47	chr3:42545800-42546800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr3:42545800-42547000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:42545800-42547400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:42545800-42547400	Weak transcription	Brain Inferior Temporal Lobe	brain

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