Variant report

Variant	rs772251
Chromosome Location	chr12:56144344-56144345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56142466..56145089-chr12:56208136..56210341,2	K562	blood:
2	chr12:56143361..56145191-chr12:56145482..56147096,2	K562	blood:
3	chr12:56134722..56138691-chr12:56142013..56149652,14	MCF-7	breast:
4	chr12:56142499..56144983-chr12:56359769..56361357,2	MCF-7	breast:
5	chr12:56142876..56145007-chr12:56173971..56176106,2	MCF-7	breast:
6	chr12:56142972..56145616-chr12:56157649..56159280,2	MCF-7	breast:
7	chr12:56122376..56124442-chr12:56143202..56144708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185664	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000135414	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1466512	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs1725358	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2449476	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs2694008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs2887997	1.00[YRI][hapmap]
rs4759012	1.00[YRI][hapmap]
rs7305623	1.00[MEX][hapmap]
rs7310325	1.00[MEX][hapmap]
rs772252	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs772257	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs772260	1.00[YRI][hapmap]
rs7956337	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs7963379	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56138000-56144800	Weak transcription	Liver	Liver
2	chr12:56138000-56144800	Weak transcription	Lung	lung
3	chr12:56138000-56145000	Weak transcription	Gastric	stomach
4	chr12:56138200-56145200	Weak transcription	Esophagus	oesophagus
5	chr12:56138200-56150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:56138400-56145000	Weak transcription	Pancreas	Pancrea
7	chr12:56138400-56145400	Weak transcription	NHEK	skin
8	chr12:56138800-56145000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:56138800-56145000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:56138800-56146200	Weak transcription	Small Intestine	intestine
11	chr12:56139200-56144400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:56139200-56144600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:56139200-56144600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:56139200-56144600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:56139200-56145000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:56139200-56145200	Weak transcription	HUVEC	blood vessel
17	chr12:56139200-56145400	Weak transcription	HMEC	breast
18	chr12:56139200-56149000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:56139400-56144600	Weak transcription	HSMM	muscle
20	chr12:56139400-56144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:56139400-56144800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:56139400-56144800	Weak transcription	Colonic Mucosa	Colon
23	chr12:56139400-56145000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:56139400-56145000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:56139400-56145000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:56139400-56145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:56139400-56145200	Weak transcription	A549	lung
28	chr12:56139400-56150000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:56139400-56174600	Weak transcription	Stomach Mucosa	stomach
30	chr12:56139800-56144600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:56140000-56144600	Weak transcription	Right Atrium	heart
32	chr12:56140000-56145600	Weak transcription	Left Ventricle	heart
33	chr12:56140200-56144600	Weak transcription	Ovary	ovary
34	chr12:56140200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:56140200-56145600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:56140400-56144800	Weak transcription	HepG2	liver
37	chr12:56140400-56145000	Weak transcription	Fetal Brain Male	brain
38	chr12:56140400-56145000	Weak transcription	NH-A	brain
39	chr12:56140400-56145200	Weak transcription	Brain Angular Gyrus	brain
40	chr12:56140400-56151200	Weak transcription	Psoas Muscle	Psoas
41	chr12:56140600-56144600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:56140800-56144400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:56140800-56145200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:56141000-56144600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:56141000-56148800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:56141400-56151400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:56141400-56151400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:56141400-56152400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:56141600-56144800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:56141600-56145800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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