Variant report

Variant	rs12314388
Chromosome Location	chr12:26137883-26137884
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26110616..26112920-chr12:26135351..26139719,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10219479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048395	0.86[EUR][1000 genomes]
rs11048396	0.86[EUR][1000 genomes]
rs12300961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929960	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17354107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354478	0.90[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361755	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17362314	0.88[EUR][1000 genomes]
rs17362453	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs17362593	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362614	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17362901	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17458637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459432	0.88[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17459771	0.88[EUR][1000 genomes]
rs17459910	0.88[EUR][1000 genomes]
rs17460800	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996091	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963645	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4963944	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4963945	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963949	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963950	0.82[ASN][1000 genomes]
rs55965624	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56051193	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169892	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228589	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369291	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56399330	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58178281	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73074880	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074882	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074895	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077109	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077123	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077138	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077155	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077158	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079015	0.88[EUR][1000 genomes]
rs73079022	0.87[EUR][1000 genomes]
rs73079027	0.88[EUR][1000 genomes]
rs73079032	0.88[EUR][1000 genomes]
rs73079036	0.88[EUR][1000 genomes]
rs73079059	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7486150	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
4	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
5	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
6	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:26131000-26145400	Weak transcription	Lung	lung
9	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:26131000-26146200	Weak transcription	HSMM	muscle
11	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:26132800-26138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:26132800-26138000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:26132800-26138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:26133000-26138000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:26133000-26139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:26133000-26144600	Weak transcription	HMEC	breast
20	chr12:26133000-26144600	Weak transcription	NHEK	skin
21	chr12:26133000-26145200	Weak transcription	NH-A	brain
22	chr12:26133000-26145200	Weak transcription	Osteobl	bone
23	chr12:26133200-26138000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:26133200-26138200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:26133600-26138000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:26134200-26138200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:26134400-26138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:26134400-26141600	Weak transcription	NHDF-Ad	bronchial
30	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:26134600-26138000	Weak transcription	Aorta	Aorta
34	chr12:26134600-26139000	Weak transcription	Right Atrium	heart
35	chr12:26134800-26138000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:26135400-26138000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:26135600-26138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:26135600-26139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:26135800-26138200	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:26135800-26138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:26135800-26139400	Weak transcription	Small Intestine	intestine
42	chr12:26136000-26138000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:26136000-26141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:26136400-26139800	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:26136800-26142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:26137200-26140200	Enhancers	Ovary	ovary
47	chr12:26137200-26140200	Enhancers	Psoas Muscle	Psoas
48	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:26137400-26139200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:26137400-26139400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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