Variant report

Variant	rs7972682
Chromosome Location	chr12:12304590-12304591
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	chr12:12287758..12289771-chr12:12301948..12304913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11054765	1.00[JPT][hapmap]
rs11834619	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488505	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs718403	1.00[CHB][hapmap]
rs7310632	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7310718	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310868	1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7315313	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7971789	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980348	1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12263800-12314600	Weak transcription	Esophagus	oesophagus
3	chr12:12264400-12311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12271400-12306600	Weak transcription	Small Intestine	intestine
6	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:12272400-12325200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:12272600-12305000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:12274600-12313600	Weak transcription	Colonic Mucosa	Colon
10	chr12:12277400-12306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:12277600-12311600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:12278200-12310600	Weak transcription	Hela-S3	cervix
13	chr12:12279800-12311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:12279800-12311000	Weak transcription	HMEC	breast
15	chr12:12279800-12311600	Weak transcription	Dnd41	blood
16	chr12:12279800-12313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
19	chr12:12283400-12309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12284800-12304600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:12285000-12309800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:12285000-12311400	Weak transcription	Pancreas	Pancrea
23	chr12:12285600-12315000	Weak transcription	Fetal Heart	heart
24	chr12:12287400-12318200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:12288200-12310600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:12288200-12342800	Weak transcription	K562	blood
27	chr12:12288600-12311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12289400-12318200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:12292400-12304600	Strong transcription	Liver	Liver
30	chr12:12297200-12318000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:12297600-12321400	Weak transcription	Gastric	stomach
32	chr12:12298000-12306000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:12298000-12308400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:12298800-12304600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:12298800-12312200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:12299000-12305800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:12299200-12310200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:12299600-12304600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:12300000-12305200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:12300600-12315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:12300800-12313200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:12301200-12304600	Strong transcription	NH-A	brain
43	chr12:12301400-12304600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:12301800-12308200	Weak transcription	Placenta	Placenta
45	chr12:12302000-12310200	Weak transcription	NHDF-Ad	bronchial
46	chr12:12302000-12311400	Weak transcription	Aorta	Aorta
47	chr12:12302000-12311800	Weak transcription	Lung	lung
48	chr12:12302000-12318000	Weak transcription	Stomach Mucosa	stomach
49	chr12:12302200-12325000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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