Variant report

Variant	rs12246676
Chromosome Location	chr10:22973117-22973118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22912213..22914953-chr10:22971125..22973700,2	MCF-7	breast:
2	chr10:22954085..22955881-chr10:22969545..22973376,3	K562	blood:
3	chr10:22972373..22974105-chr10:23339764..23342277,2	K562	blood:
4	chr10:22972317..22974563-chr10:23000781..23004617,5	K562	blood:
5	chr10:22970833..22976396-chr10:22998694..23005048,8	K562	blood:
6	chr10:22947999..22952068-chr10:22969856..22973732,4	MCF-7	breast:
7	chr10:22969549..22974031-chr10:22999027..23004713,8	MCF-7	breast:
8	chr10:22918230..22923281-chr10:22970702..22974726,7	K562	blood:
9	chr10:22915388..22917585-chr10:22971336..22974325,2	MCF-7	breast:
10	chr10:21814525..21816232-chr10:22972683..22974266,2	K562	blood:
11	chr10:22970725..22973853-chr10:23334957..23339214,5	K562	blood:
12	chr10:22907517..22909327-chr10:22970416..22973310,2	MCF-7	breast:
13	chr10:22968680..22970834-chr10:22971018..22973569,2	K562	blood:
14	chr10:22920959..22922895-chr10:22971419..22973698,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150867	Chromatin interaction
ENSG00000180592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10764339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10764344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828325	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828328	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11013052	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013067	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013068	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013077	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11013091	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1171490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1171492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1171497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1171503	1.00[CHB][hapmap]
rs1171504	1.00[CHB][hapmap]
rs1171506	1.00[CHB][hapmap]
rs1171509	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12243216	1.00[YRI][hapmap]
rs12253847	1.00[CHB][hapmap]
rs12354766	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12356117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12357289	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12357384	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12357444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12358560	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12770214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12774725	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1343504	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1409393	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1409395	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1614387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1750748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1750777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778334	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778335	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778338	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778340	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778345	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1778347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2031620	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2559534	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2798981	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7071306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7912132	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7921549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs943196	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs943197	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9645524	1.00[JPT][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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22958600-22975400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr10:22959200-22980000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:22961800-22979600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:22962600-22974600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:22964000-22973600	Weak transcription	Psoas Muscle	Psoas
6	chr10:22968400-22973600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:22968400-22976000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:22969400-22976600	Enhancers	Brain Cingulate Gyrus	brain
9	chr10:22969600-22973200	Enhancers	NH-A	brain
10	chr10:22969800-22974000	Enhancers	Brain Angular Gyrus	brain
11	chr10:22969800-22975200	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:22969800-22975200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:22969800-22975600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:22969800-22976000	Enhancers	Brain Anterior Caudate	brain
15	chr10:22970000-22973200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:22970000-22974200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr10:22970000-22974600	Enhancers	Stomach Mucosa	stomach
18	chr10:22970000-22975200	Enhancers	HSMM	muscle
19	chr10:22970200-22973200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:22970200-22973200	Enhancers	Osteobl	bone
21	chr10:22970200-22973400	Enhancers	Liver	Liver
22	chr10:22970200-22973800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:22970200-22974000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:22970200-22974000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:22970200-22974800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:22970200-22975000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:22970400-22974000	Enhancers	NHLF	lung
28	chr10:22970400-22977800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:22970600-22989000	Weak transcription	Esophagus	oesophagus
30	chr10:22970800-22973800	Enhancers	Fetal Heart	heart
31	chr10:22971000-22973200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:22971000-22973200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr10:22971000-22973200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr10:22971000-22973200	Flanking Active TSS	A549	lung
35	chr10:22971000-22974000	Flanking Active TSS	GM12878-XiMat	blood
36	chr10:22971000-22974400	Enhancers	HSMMtube	muscle
37	chr10:22971000-22974600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:22971200-22973200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:22971200-22973200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:22971200-22975800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:22971400-22973200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:22971400-22973200	Flanking Active TSS	Dnd41	blood
43	chr10:22971400-22974000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:22971400-22976000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:22971600-22973800	Enhancers	HMEC	breast
46	chr10:22971600-22973800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr10:22971800-22974000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr10:22972000-22974000	Flanking Active TSS	K562	blood
49	chr10:22972000-22977200	Enhancers	Brain Hippocampus Middle	brain
50	chr10:22972200-22973800	Enhancers	Primary neutrophils fromperipheralblood	blood

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