Variant report

Variant	rs2629445
Chromosome Location	chr12:56689848-56689849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56510196..56511928-chr12:56689159..56690944,2	MCF-7	breast:
2	chr12:56689196..56692012-chr12:56699193..56702684,3	MCF-7	breast:
3	chr12:56689095..56691076-chr12:56846603..56848733,2	K562	blood:
4	chr12:56689719..56692389-chr12:56726431..56729016,2	K562	blood:
5	chr12:56689038..56691592-chr12:56700976..56703186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257740	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000135517	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10876881	0.82[AFR][1000 genomes]
rs10876885	1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11171818	1.00[EUR][1000 genomes]
rs11171819	1.00[EUR][1000 genomes]
rs11171822	1.00[EUR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11830379	1.00[EUR][1000 genomes]
rs11832580	1.00[EUR][1000 genomes]
rs11833064	1.00[EUR][1000 genomes]
rs11834948	1.00[EUR][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs12306512	1.00[EUR][1000 genomes]
rs12318887	1.00[EUR][1000 genomes]
rs12322356	1.00[EUR][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs17118590	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2035948	1.00[EUR][1000 genomes]
rs2629449	1.00[MEX][hapmap]
rs2640566	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57387549	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs61733875	1.00[EUR][1000 genomes]
rs6581093	1.00[EUR][1000 genomes]
rs72478990	1.00[EUR][1000 genomes]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73324353	1.00[EUR][1000 genomes]
rs73324358	1.00[EUR][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs74094726	1.00[EUR][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7954200	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7979812	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56662000-56690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:56662400-56692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:56662600-56690000	Strong transcription	Fetal Muscle Leg	muscle
4	chr12:56663000-56692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56669600-56692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:56676600-56693000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:56676800-56693200	Weak transcription	Aorta	Aorta
8	chr12:56677200-56692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:56677800-56693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:56680000-56691600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:56680000-56693200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:56680200-56692200	Weak transcription	NHDF-Ad	bronchial
13	chr12:56680800-56690000	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:56680800-56692200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:56681000-56692000	Weak transcription	Pancreas	Pancrea
16	chr12:56681000-56692200	Weak transcription	Esophagus	oesophagus
17	chr12:56681200-56690200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:56681200-56693200	Weak transcription	Ovary	ovary
19	chr12:56681800-56691800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:56683000-56690400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:56683200-56691600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:56683800-56690200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:56685600-56690000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:56685600-56690200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:56685600-56690400	Weak transcription	Gastric	stomach
26	chr12:56685600-56690400	Weak transcription	HUVEC	blood vessel
27	chr12:56685600-56690600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:56685600-56690600	Weak transcription	HSMM	muscle
29	chr12:56685600-56690800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:56685600-56691600	Weak transcription	Fetal Brain Female	brain
31	chr12:56685600-56691600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:56685600-56691800	Weak transcription	Lung	lung
33	chr12:56685600-56692200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:56685600-56692200	Weak transcription	Fetal Lung	lung
35	chr12:56685600-56692400	Weak transcription	HSMMtube	muscle
36	chr12:56685600-56692800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:56685600-56692800	Weak transcription	Fetal Kidney	kidney
38	chr12:56685800-56690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:56685800-56690000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:56685800-56690000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:56685800-56690000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:56685800-56690000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:56685800-56690000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:56685800-56690000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:56685800-56690000	Weak transcription	Colonic Mucosa	Colon
46	chr12:56685800-56690000	Weak transcription	Right Ventricle	heart
47	chr12:56685800-56690000	Weak transcription	NHLF	lung
48	chr12:56685800-56690000	Weak transcription	Osteobl	bone
49	chr12:56685800-56690200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:56685800-56690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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