Variant report

Variant	rs772250
Chromosome Location	chr12:56141503-56141504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
2	chr12:56140643..56143298-chr12:56221131..56223756,3	K562	blood:
3	chr12:56131110..56132920-chr12:56139527..56141888,2	K562	blood:
4	chr12:56135401..56138372-chr12:56138413..56141601,7	MCF-7	breast:
5	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
6	chr12:56110287..56112074-chr12:56139458..56141706,2	K562	blood:
7	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:

Variant related genes	Relation type
ENSG00000258056	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000182796	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1466512	1.00[AMR][1000 genomes]
rs1681085	1.00[AMR][1000 genomes]
rs1725358	1.00[AMR][1000 genomes]
rs1871999	1.00[AMR][1000 genomes]
rs2449476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694008	1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4759012	1.00[AMR][1000 genomes]
rs4759202	1.00[AMR][1000 genomes]
rs55884432	1.00[AMR][1000 genomes]
rs6581083	1.00[AMR][1000 genomes]
rs7294345	1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AMR][1000 genomes]
rs772260	1.00[AMR][1000 genomes]
rs772261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963379	1.00[AMR][1000 genomes]
rs812230	1.00[AMR][1000 genomes]

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:125 , 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	chr12:56138200-56142400	Weak transcription	Aorta	Aorta
5	chr12:56138200-56145200	Weak transcription	Esophagus	oesophagus
6	chr12:56138200-56150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:56138400-56145000	Weak transcription	Pancreas	Pancrea
8	chr12:56138400-56145400	Weak transcription	NHEK	skin
9	chr12:56138800-56145000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:56138800-56145000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:56138800-56146200	Weak transcription	Small Intestine	intestine
12	chr12:56139000-56143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:56139200-56142200	Weak transcription	Spleen	Spleen
14	chr12:56139200-56142400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:56139200-56142400	Weak transcription	Hela-S3	cervix
16	chr12:56139200-56142600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:56139200-56143400	Weak transcription	HSMMtube	muscle
18	chr12:56139200-56144400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:56139200-56144600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:56139200-56144600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:56139200-56144600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:56139200-56145000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:56139200-56145200	Weak transcription	HUVEC	blood vessel
24	chr12:56139200-56145400	Weak transcription	HMEC	breast
25	chr12:56139200-56149000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:56139400-56141800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:56139400-56141800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:56139400-56142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:56139400-56142400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:56139400-56142800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:56139400-56142800	Weak transcription	Osteobl	bone
32	chr12:56139400-56143200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:56139400-56144600	Weak transcription	HSMM	muscle
34	chr12:56139400-56144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:56139400-56144800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:56139400-56144800	Weak transcription	Colonic Mucosa	Colon
37	chr12:56139400-56145000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:56139400-56145000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:56139400-56145000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:56139400-56145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:56139400-56145200	Weak transcription	A549	lung
42	chr12:56139400-56150000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:56139400-56174600	Weak transcription	Stomach Mucosa	stomach
44	chr12:56139800-56141600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:56139800-56142200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:56139800-56142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:56139800-56142400	Weak transcription	Thymus	Thymus
48	chr12:56139800-56142800	Weak transcription	Placenta	Placenta
49	chr12:56139800-56144600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:56140000-56142000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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