Variant report

Variant	rs7315682
Chromosome Location	chr12:32685957-32685958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr12:32685835-32686277	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr12:32685808-32686255	ECC-1	luminal epithelium:	n/a	n/a
3	SIN3A	chr12:32685957-32686171	H1-hESC	embryonic stem cell:	n/a	n/a
4	ESR1	chr12:32685826-32686238	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32684229..32686702-chr12:32690075..32692767,2	K562	blood:

Variant related genes	Relation type
FGD4	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10506092	0.87[CHD][hapmap]
rs16919947	0.86[CHD][hapmap]
rs16919969	0.87[CHD][hapmap]
rs1875311	0.87[CHD][hapmap]
rs7966521	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7966860	1.00[ASN][1000 genomes]
rs7967334	1.00[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	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:32671600-32686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:32676000-32686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:32676200-32687000	Weak transcription	Left Ventricle	heart
8	chr12:32676200-32687000	Weak transcription	Right Ventricle	heart
9	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:32676400-32686600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:32676400-32686800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:32676600-32686000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:32676600-32686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:32677200-32686200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:32677800-32686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:32678400-32687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:32678800-32686800	Weak transcription	HMEC	breast
18	chr12:32680400-32687000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:32681600-32688200	Weak transcription	Esophagus	oesophagus
20	chr12:32682400-32686400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:32683200-32687000	Enhancers	Liver	Liver
22	chr12:32683200-32688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32683400-32686600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:32683600-32688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:32684400-32686800	Enhancers	HepG2	liver
26	chr12:32684400-32688600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:32684600-32687000	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:32684800-32686800	Enhancers	Fetal Intestine Large	intestine
29	chr12:32684800-32687000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:32685000-32686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:32685000-32687000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:32685200-32686200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:32685200-32686800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:32685200-32686800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:32685200-32687000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr12:32685400-32686000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:32685400-32686000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:32685400-32686000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr12:32685400-32686000	Flanking Active TSS	A549	lung
40	chr12:32685400-32686200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:32685400-32686400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:32685400-32686800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:32685400-32686800	Enhancers	HSMM	muscle
44	chr12:32685400-32687200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:32685400-32688800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:32685600-32686200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:32685600-32686800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:32685600-32686800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:32685600-32686800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:32685600-32686800	Enhancers	Skeletal Muscle Female	skeletal muscle

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