Variant report

Variant	rs4759028
Chromosome Location	chr12:57080183-57080184
allele	G/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57026160..57032326-chr12:57079667..57084551,17	K562	blood:
2	chr12:57071098..57073439-chr12:57077293..57080257,6	MCF-7	breast:
3	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
4	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:
5	chr12:57037257..57041566-chr12:57079256..57083231,8	MCF-7	breast:
6	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
7	chr12:57022708..57024363-chr12:57079075..57081851,2	K562	blood:
8	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:
9	chr12:57035919..57041993-chr12:57078486..57083961,15	MCF-7	breast:
10	chr12:57038667..57042033-chr12:57076746..57080417,4	K562	blood:
11	chr12:57077883..57080577-chr12:57094681..57096906,2	K562	blood:
12	chr12:57078269..57080513-chr12:57145758..57148526,2	K562	blood:
13	chr12:57037416..57042033-chr12:57076746..57084678,17	K562	blood:
14	chr12:57022393..57025472-chr12:57080099..57082971,5	MCF-7	breast:
15	chr12:57079674..57082070-chr12:57399337..57401813,2	MCF-7	breast:
16	chr12:57078008..57083064-chr12:57107591..57112002,6	MCF-7	breast:
17	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
18	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
19	chr12:57079557..57083885-chr12:57143480..57147449,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000025423	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000198056	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1020848	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10747769	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876913	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876914	0.91[ASN][1000 genomes]
rs10876915	0.91[ASN][1000 genomes]
rs10876916	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1107479	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171914	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171916	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171917	0.91[ASN][1000 genomes]
rs11835120	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11837319	0.91[ASN][1000 genomes]
rs12229457	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1465081	0.91[ASN][1000 genomes]
rs1563896	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1563897	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2255074	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2290893	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926740	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950387	0.84[ASN][1000 genomes]
rs2950388	0.91[ASN][1000 genomes]
rs2950390	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950393	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950394	0.91[ASN][1000 genomes]
rs2958123	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2958124	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2958145	0.91[ASN][1000 genomes]
rs2958146	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2958153	0.97[ASN][1000 genomes]
rs2958154	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2958155	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36012661	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67046307	0.91[ASN][1000 genomes]
rs7297289	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303216	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309526	0.82[ASN][1000 genomes]
rs7315472	0.91[ASN][1000 genomes]
rs73337030	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972420	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7973157	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975783	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7980378	0.92[ASN][1000 genomes]
rs7980835	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs941207	0.85[ASN][1000 genomes]
rs9634246	0.91[ASN][1000 genomes]
rs9634247	0.88[ASN][1000 genomes]
rs9634277	0.88[ASN][1000 genomes]
rs9989034	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57073000-57080200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:57077000-57080400	Active TSS	HepG2	liver
3	chr12:57077000-57081000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr12:57077000-57083800	Active TSS	GM12878-XiMat	blood
5	chr12:57077200-57083400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:57077400-57080200	Weak transcription	Lung	lung
7	chr12:57077400-57083200	Active TSS	Colonic Mucosa	Colon
8	chr12:57077800-57080600	Enhancers	Fetal Brain Male	brain
9	chr12:57077800-57081200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:57077800-57081600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr12:57077800-57081800	Active TSS	Right Atrium	heart
12	chr12:57077800-57082400	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:57077800-57082600	Active TSS	NHLF	lung
14	chr12:57077800-57083000	Active TSS	Psoas Muscle	Psoas
15	chr12:57077800-57083200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:57077800-57083200	Active TSS	Ovary	ovary
17	chr12:57077800-57083200	Active TSS	Right Ventricle	heart
18	chr12:57078000-57080200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
19	chr12:57078000-57082600	Active TSS	Fetal Kidney	kidney
20	chr12:57078200-57082400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:57078200-57083000	Active TSS	HSMM	muscle
22	chr12:57078400-57080600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:57078400-57080600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr12:57078400-57080600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
25	chr12:57078400-57083400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:57078600-57080200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:57078600-57082400	Active TSS	Pancreas	Pancrea
28	chr12:57078600-57082400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:57078600-57083000	Active TSS	HMEC	breast
30	chr12:57078600-57083800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:57078800-57080200	Weak transcription	HSMMtube	muscle
32	chr12:57078800-57080600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr12:57078800-57080800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:57078800-57081200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:57078800-57082600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:57078800-57082800	Active TSS	Thymus	Thymus
37	chr12:57078800-57083800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr12:57078800-57084200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:57079000-57080400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:57079000-57080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:57079000-57080400	Active TSS	A549	lung
42	chr12:57079000-57082000	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:57079000-57082400	Active TSS	Placenta	Placenta
44	chr12:57079000-57082400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:57079000-57082600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:57079000-57082600	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:57079000-57082800	Active TSS	Brain Hippocampus Middle	brain
48	chr12:57079000-57083000	Active TSS	Liver	Liver
49	chr12:57079000-57083200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:57079000-57083400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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