Variant report

Variant	rs12825762
Chromosome Location	chr12:122983973-122983974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:122983947-122986313	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:122983896-122984041	HepG2	liver:	n/a	n/a
3	MAX	chr12:122983942-122984241	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122882568..122884696-chr12:122981168..122984063,2	K562	blood:
3	chr12:122241026..122243237-chr12:122983167..122985698,2	K562	blood:
4	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
5	chr12:122964664..122966216-chr12:122982581..122984411,2	K562	blood:
6	chr12:122983924..122985565-chr12:123450706..123452240,2	MCF-7	breast:
7	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
8	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
9	chr12:122882673..122885520-chr12:122982556..122985171,3	K562	blood:
10	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
11	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
12	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000252192	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10744242	0.84[EUR][1000 genomes]
rs10773230	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10846968	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10846993	0.88[ASN][1000 genomes]
rs10847090	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11058362	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058398	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11610303	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11615830	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371048	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12817342	0.86[ASN][1000 genomes]
rs12828165	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1532578	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2133557	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4356269	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758657	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758658	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758660	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758692	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57311174	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58600355	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61956119	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6416295	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489014	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489051	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6489056	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7132830	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7134381	0.84[EUR][1000 genomes]
rs7136564	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7296680	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297866	0.84[EUR][1000 genomes]
rs7298839	0.87[EUR][1000 genomes]
rs7303688	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307867	0.84[EUR][1000 genomes]
rs7311573	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7486949	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955513	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7967928	0.86[EUR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122956200-122984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:122959400-122984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122963600-122984000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:122973000-122984000	Weak transcription	Esophagus	oesophagus
5	chr12:122973000-122984600	Weak transcription	Gastric	stomach
6	chr12:122974000-122984000	Weak transcription	Right Ventricle	heart
7	chr12:122974200-122984400	Weak transcription	Stomach Mucosa	stomach
8	chr12:122976800-122984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:122976800-122984000	Weak transcription	Colonic Mucosa	Colon
10	chr12:122976800-122984200	Weak transcription	Fetal Kidney	kidney
11	chr12:122977000-122984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:122977000-122984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122977000-122984200	Weak transcription	Aorta	Aorta
14	chr12:122977000-122984400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:122977200-122984200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:122977400-122984600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:122977600-122984000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122980200-122984000	Weak transcription	Placenta	Placenta
19	chr12:122980200-122984000	Weak transcription	Lung	lung
20	chr12:122980200-122984800	Weak transcription	Spleen	Spleen
21	chr12:122980400-122984200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:122980800-122984000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:122981200-122984000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:122981400-122984000	Enhancers	Liver	Liver
25	chr12:122981600-122984000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:122982200-122984400	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:122982200-122985600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:122982200-122985800	Active TSS	GM12878-XiMat	blood
29	chr12:122982400-122984000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:122982600-122984200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:122982600-122984200	Weak transcription	Fetal Stomach	stomach
32	chr12:122982600-122984400	Enhancers	Fetal Brain Male	brain
33	chr12:122982600-122985800	Active TSS	K562	blood
34	chr12:122982800-122984200	Enhancers	Primary B cells from cord blood	blood
35	chr12:122982800-122984200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr12:122982800-122985000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122982800-122985800	Active TSS	HSMMtube	muscle
38	chr12:122982800-122986000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr12:122983000-122984000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:122983000-122984000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:122983000-122984000	Weak transcription	Left Ventricle	heart
42	chr12:122983000-122984000	Weak transcription	Pancreas	Pancrea
43	chr12:122983000-122984000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:122983000-122984200	Weak transcription	Ovary	ovary
45	chr12:122983000-122984200	Flanking Active TSS	HUVEC	blood vessel
46	chr12:122983000-122984600	Active TSS	HepG2	liver
47	chr12:122983000-122985600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:122983000-122985800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:122983200-122984000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:122983200-122984000	Enhancers	Fetal Intestine Small	intestine

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