Variant report

Variant	rs2229363
Chromosome Location	chr12:56737251-56737252
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56732071..56735485-chr12:56736993..56740173,5	K562	blood:
2	chr12:56726418..56729508-chr12:56735018..56739337,4	MCF-7	breast:
3	chr12:56737004..56738553-chr12:56740312..56742301,2	MCF-7	breast:
4	chr12:56726583..56729047-chr12:56736802..56739233,2	MCF-7	breast:
5	chr12:56736740..56738790-chr12:56747055..56748804,2	MCF-7	breast:
6	chr12:56735954..56738255-chr12:56739970..56742035,3	K562	blood:

Variant related genes	Relation type
ENSG00000170581	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000110944	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11544851	1.00[LWK][hapmap]
rs2066815	1.00[LWK][hapmap]
rs3809124	1.00[CHB][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56728600-56739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:56728600-56748200	Weak transcription	Fetal Brain Male	brain
3	chr12:56728800-56742200	Weak transcription	Stomach Mucosa	stomach
4	chr12:56728800-56752600	Weak transcription	Fetal Heart	heart
5	chr12:56733000-56753200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:56733400-56739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:56733600-56739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56733600-56747000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:56734000-56750800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:56734400-56738600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56734400-56738600	Strong transcription	Osteobl	bone
12	chr12:56734400-56739600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:56734800-56750600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:56734800-56750800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:56734800-56750800	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:56735000-56738200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:56735000-56738200	Strong transcription	HSMMtube	muscle
18	chr12:56735000-56738400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:56735000-56740600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:56735000-56746800	Strong transcription	HSMM	muscle
21	chr12:56735000-56750200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:56735000-56750400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:56735000-56750400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:56735000-56750400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:56735000-56750400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:56735000-56750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:56735000-56750400	Strong transcription	Adipose Nuclei	Adipose
28	chr12:56735000-56750400	Strong transcription	Brain Hippocampus Middle	brain
29	chr12:56735000-56750800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:56735000-56750800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:56735000-56750800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:56735000-56750800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:56735000-56750800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:56735000-56750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:56735000-56750800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:56735000-56750800	Strong transcription	Fetal Thymus	thymus
37	chr12:56735200-56739600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:56735200-56742200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:56735200-56749400	Strong transcription	Liver	Liver
40	chr12:56735200-56750200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:56735200-56750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:56735200-56750400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:56735200-56750400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:56735200-56750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:56735200-56750400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:56735200-56750400	Strong transcription	Brain Anterior Caudate	brain
47	chr12:56735200-56750400	Strong transcription	Placenta	Placenta
48	chr12:56735200-56750600	Strong transcription	Primary B cells from cord blood	blood
49	chr12:56735200-56750800	Strong transcription	Primary T cells from cord blood	blood
50	chr12:56735200-56750800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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