Variant report

Variant	rs7314978
Chromosome Location	chr12:32597558-32597559
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	chr12:32585117..32587361-chr12:32596940..32599478,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11052001	0.90[AMR][1000 genomes]
rs11052002	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11052011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2728712	0.89[EUR][1000 genomes]
rs73088096	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73090138	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73090152	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7979505	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32582600-32598600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32589400-32598400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:32590200-32597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:32591000-32597600	Weak transcription	HepG2	liver
5	chr12:32591000-32599600	Weak transcription	Lung	lung
6	chr12:32591200-32597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32591400-32597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:32592600-32608600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:32593400-32599000	Weak transcription	Colonic Mucosa	Colon
10	chr12:32593600-32597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:32593800-32597600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:32594000-32608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:32594200-32597600	Weak transcription	Fetal Intestine Large	intestine
14	chr12:32594200-32597800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:32594200-32598000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:32594200-32598600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:32594600-32597600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:32594600-32599000	Weak transcription	Pancreas	Pancrea
19	chr12:32594600-32599200	Weak transcription	Right Atrium	heart
20	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
21	chr12:32594800-32597600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:32594800-32598000	Weak transcription	Ovary	ovary
23	chr12:32594800-32598400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:32594800-32598800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:32594800-32598800	Weak transcription	Left Ventricle	heart
26	chr12:32594800-32599400	Weak transcription	Gastric	stomach
27	chr12:32595000-32597600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:32595000-32597600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:32595000-32598800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:32595000-32598800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:32595000-32605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:32595600-32598000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:32595800-32604800	Enhancers	HUVEC	blood vessel
34	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
35	chr12:32596200-32597600	Enhancers	A549	lung
36	chr12:32596200-32599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:32596200-32601200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:32596200-32602600	Enhancers	HMEC	breast
39	chr12:32596400-32597600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:32596400-32597600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:32596600-32599600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:32596800-32597600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:32596800-32601000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32597000-32597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:32597000-32598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:32597000-32602600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:32597200-32599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:32597400-32597800	Enhancers	Placenta	Placenta
49	chr12:32597400-32597800	Enhancers	Right Ventricle	heart
50	chr12:32597400-32598000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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