Variant report

Variant	rs7975633
Chromosome Location	chr12:62666124-62666125
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62665184..62667004-chr12:62667146..62669305,3	K562	blood:
2	chr12:62664793..62666534-chr12:62676803..62678549,2	K562	blood:
3	chr12:62665991..62668635-chr12:62694921..62697078,2	MCF-7	breast:
4	chr12:62665950..62669745-chr12:62669787..62672492,3	MCF-7	breast:
5	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:
6	chr12:62652480..62656842-chr12:62660484..62666206,11	MCF-7	breast:
7	chr12:62665900..62668712-chr12:62685607..62687390,2	K562	blood:
8	chr12:62663412..62666237-chr12:62669959..62672876,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

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

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

rs_ID	r²[population]
rs10877822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877827	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877828	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877839	0.88[CEU][hapmap]
rs11174442	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11514251	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12316469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532435	0.88[CEU][hapmap]
rs17097891	0.81[CEU][hapmap]
rs4145153	0.88[CEU][hapmap]
rs767390	0.88[CEU][hapmap]
rs7969077	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
3	chr12:62656400-62669600	Enhancers	Liver	Liver
4	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:62656600-62668400	Weak transcription	Fetal Brain Female	brain
6	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
7	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
8	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:62657400-62666600	Weak transcription	HepG2	liver
10	chr12:62658400-62669400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:62659000-62671800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:62659200-62669800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:62659400-62671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:62659600-62667800	Weak transcription	Left Ventricle	heart
17	chr12:62661400-62673600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:62661600-62667800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:62661600-62668600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:62661600-62676000	Weak transcription	Fetal Thymus	thymus
21	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:62661800-62666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:62662200-62676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:62662400-62666600	Weak transcription	NHLF	lung
25	chr12:62662600-62666800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:62662800-62669600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:62663000-62666400	Weak transcription	A549	lung
28	chr12:62663000-62668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:62663200-62669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:62663200-62670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:62663200-62671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:62663200-62684800	Weak transcription	NHEK	skin
34	chr12:62663400-62667400	Weak transcription	Osteobl	bone
35	chr12:62663400-62667800	Weak transcription	Small Intestine	intestine
36	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:62663600-62666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:62663600-62666800	Weak transcription	Thymus	Thymus
39	chr12:62663600-62667800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:62663600-62667800	Weak transcription	Psoas Muscle	Psoas
41	chr12:62663600-62668000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:62663600-62668200	Weak transcription	Ovary	ovary
43	chr12:62663800-62666800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:62663800-62669000	Enhancers	Colon Smooth Muscle	Colon
45	chr12:62663800-62671200	Enhancers	Fetal Heart	heart
46	chr12:62663800-62671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:62664000-62669400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:62664200-62667000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:62664200-62667000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:62664200-62668200	Enhancers	Stomach Mucosa	stomach

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