Variant report

Variant	rs793596
Chromosome Location	chr12:118800759-118800760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118794409..118797203-chr12:118798359..118800933,4	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs404566	0.80[AMR][1000 genomes]
rs410747	0.82[ASN][1000 genomes]
rs461499	0.80[AMR][1000 genomes]
rs484838	0.96[ASN][1000 genomes]
rs492939	0.96[ASN][1000 genomes]
rs494005	0.82[ASN][1000 genomes]
rs503548	0.96[ASN][1000 genomes]
rs519480	0.96[ASN][1000 genomes]
rs523011	0.96[ASN][1000 genomes]
rs571113	0.97[ASN][1000 genomes]
rs575121	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7136004	0.81[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118794800-118807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:118794800-118808400	Weak transcription	Small Intestine	intestine
3	chr12:118794800-118809000	Weak transcription	Lung	lung
4	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
5	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
7	chr12:118795600-118801400	Weak transcription	Left Ventricle	heart
8	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:118796000-118801400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:118796200-118808200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:118797000-118807200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:118797200-118808000	Weak transcription	Liver	Liver
13	chr12:118797200-118808000	Weak transcription	Fetal Lung	lung
14	chr12:118797200-118808400	Weak transcription	Fetal Stomach	stomach
15	chr12:118797400-118803400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:118797400-118808200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:118797400-118808400	Weak transcription	Fetal Intestine Large	intestine
18	chr12:118797600-118801200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:118797600-118807800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:118797600-118808200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:118797600-118808400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:118797600-118808400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:118797600-118808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:118797600-118808400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:118797800-118801400	Weak transcription	Gastric	stomach
28	chr12:118797800-118808000	Weak transcription	GM12878-XiMat	blood
29	chr12:118797800-118808400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:118798000-118808200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118798000-118808400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:118798200-118807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:118798200-118807800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:118798800-118803400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:118798800-118808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:118799000-118801800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:118799200-118801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:118799200-118802200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:118799200-118802600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:118799200-118803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:118799200-118806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:118799200-118808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:118799200-118808400	Weak transcription	A549	lung
44	chr12:118799200-118808400	Weak transcription	Osteobl	bone
45	chr12:118799200-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:118799200-118808600	Weak transcription	NH-A	brain
47	chr12:118799200-118809000	Weak transcription	HSMM	muscle
48	chr12:118799400-118802400	Weak transcription	HUVEC	blood vessel
49	chr12:118799400-118802600	Weak transcription	NHEK	skin
50	chr12:118799400-118807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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