Variant report

Variant	rs2062521
Chromosome Location	chr12:118805639-118805640
allele	A/T
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	chr12:118801970..118805772-chr12:118808206..118812909,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

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

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

rs_ID	r²[population]
rs10160871	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10507287	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12311160	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12315982	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56097381	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56818943	0.83[ASN][1000 genomes]
rs57261188	0.80[ASN][1000 genomes]
rs61388284	0.97[ASN][1000 genomes]
rs7134670	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137548	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7313514	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967474	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7974361	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[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:66 , 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	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:118796200-118808200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:118797000-118807200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:118797200-118808000	Weak transcription	Liver	Liver
11	chr12:118797200-118808000	Weak transcription	Fetal Lung	lung
12	chr12:118797200-118808400	Weak transcription	Fetal Stomach	stomach
13	chr12:118797400-118808200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:118797400-118808400	Weak transcription	Fetal Intestine Large	intestine
15	chr12:118797600-118807800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:118797600-118808200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:118797600-118808400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:118797600-118808400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:118797600-118808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:118797600-118808400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:118797800-118808000	Weak transcription	GM12878-XiMat	blood
24	chr12:118797800-118808400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:118798000-118808200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:118798000-118808400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:118798200-118807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:118798200-118807800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:118798800-118808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:118799200-118806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:118799200-118808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:118799200-118808400	Weak transcription	A549	lung
33	chr12:118799200-118808400	Weak transcription	Osteobl	bone
34	chr12:118799200-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:118799200-118808600	Weak transcription	NH-A	brain
36	chr12:118799200-118809000	Weak transcription	HSMM	muscle
37	chr12:118799400-118807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:118799400-118808200	Weak transcription	HMEC	breast
39	chr12:118799600-118808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:118800000-118808400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:118800200-118807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:118800600-118807600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:118801800-118809000	Weak transcription	Gastric	stomach
44	chr12:118801800-118809000	Weak transcription	Left Ventricle	heart
45	chr12:118802400-118808600	Weak transcription	Brain Angular Gyrus	brain
46	chr12:118803000-118806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:118803000-118807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:118803000-118808200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:118803000-118808200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:118803000-118808800	Weak transcription	Right Ventricle	heart

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