Variant report

Variant	rs7132364
Chromosome Location	chr12:122985755-122985756
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:122984499-122986098	A549	lung:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
2	CREB1	chr12:122984503-122985907	K562	blood:	n/a	n/a
3	NFIC	chr12:122985189-122985780	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:122985377-122985816	T-47D	breast:	n/a	n/a
5	CTCF	chr12:122985392-122986078	K562	blood:	n/a	chr12:122985427-122985436
6	PML	chr12:122985168-122985860	GM12878	blood:	n/a	n/a
7	MAX	chr12:122985211-122985904	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:122984627-122986286	GM19099	blood:	n/a	n/a
9	POLR2A	chr12:122984655-122986115	GM18505	blood:	n/a	n/a
10	POLR2A	chr12:122984622-122985944	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:122984613-122986002	HCT-116	colon:	n/a	n/a
12	SP1	chr12:122985137-122985997	A549	lung:	n/a	chr12:122985538-122985547 chr12:122985539-122985548 chr12:122985539-122985548 chr12:122985537-122985549 chr12:122985537-122985549
13	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
14	YY1	chr12:122985040-122985786	HCT-116	colon:	n/a	chr12:122985379-122985391
15	POLR2A	chr12:122984780-122986024	MCF-7	breast:	n/a	n/a
16	RELA	chr12:122985199-122986211	GM10847	blood:	n/a	n/a
17	POLR2A	chr12:122985276-122985781	HepG2	liver:	n/a	n/a
18	POU2F2	chr12:122985153-122985968	GM12891	blood:	n/a	n/a
19	ZNF143	chr12:122985257-122986028	H1-hESC	embryonic stem cell:	n/a	chr12:122985563-122985572 chr12:122985617-122985635 chr12:122985561-122985570 chr12:122985667-122985685 chr12:122985612-122985631 chr12:122985561-122985579 chr12:122985663-122985678
20	REST	chr12:122985121-122985837	PFSK-1	brain:	n/a	n/a
21	CREB1	chr12:122984511-122986005	HepG2	liver:	n/a	n/a
22	TAF1	chr12:122985163-122985767	MCF-7	breast:	n/a	n/a
23	FOS	chr12:122985450-122985789	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr12:122984599-122986132	GM12891	blood:	n/a	n/a
25	SIN3A	chr12:122985156-122986044	GM12878	blood:	n/a	n/a
26	SRF	chr12:122985333-122985755	K562	blood:	n/a	n/a
27	EP300	chr12:122985373-122986502	GM12878	blood:	n/a	chr12:122986146-122986160 chr12:122986174-122986188 chr12:122986161-122986171
28	MAX	chr12:122985047-122986141	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:122985076-122986339	GM12878	blood:	n/a	n/a
30	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
31	TCF12	chr12:122985604-122985906	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFYB	chr12:122985441-122985861	GM12878	blood:	n/a	chr12:122985652-122985662
33	STAT5A	chr12:122985205-122985832	K562	blood:	n/a	n/a
34	RELA	chr12:122985137-122986214	GM15510	blood:	n/a	n/a
35	TCF12	chr12:122984340-122986308	A549	lung:	n/a	n/a
36	USF1	chr12:122985433-122985903	K562	blood:	n/a	n/a
37	BCLAF1	chr12:122985149-122986166	GM12878	blood:	n/a	chr12:122985573-122985586
38	TEAD4	chr12:122985174-122985856	K562	blood:	n/a	n/a
39	SP1	chr12:122985268-122985896	GM12878	blood:	n/a	chr12:122985538-122985547 chr12:122985539-122985548 chr12:122985539-122985548 chr12:122985537-122985549 chr12:122985537-122985549
40	TAF1	chr12:122985158-122985782	GM12891	blood:	n/a	n/a
41	USF1	chr12:122985480-122985961	A549	lung:	n/a	n/a
42	POLR2A	chr12:122984650-122986223	Raji	blood:	n/a	n/a
43	POLR2A	chr12:122984648-122985936	GM18526	blood:	n/a	n/a
44	POLR2A	chr12:122984626-122986106	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:122984914-122985828	A549	lung:	n/a	n/a
46	ATF3	chr12:122985327-122986053	GM12878	blood:	n/a	chr12:122985538-122985547
47	REST	chr12:122984589-122985988	HL-60	blood:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
48	GTF2F1	chr12:122984609-122985840	Hela-S3	cervix:	n/a	n/a
49	YY1	chr12:122984658-122985949	GM12892	blood:	n/a	chr12:122985379-122985391 chr12:122985003-122985017
50	POLR2A	chr12:122984556-122985950	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr1:113161754..113162459-chr12:122985188..122985790,2	Hela-S3	cervix:
3	chr11:47270344..47270968-chr12:122985118..122985954,2	Hela-S3	cervix:
4	chr12:122985151..122985897-chr9:139743066..139743611,2	Hela-S3	cervix:
5	chr1:45186994..45187722-chr12:122985022..122985930,2	Hela-S3	cervix:
6	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
7	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
8	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
9	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
10	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:
11	chr12:122884193..122884707-chr12:122985109..122985919,2	K562	blood:
12	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
13	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
14	chr12:122985061..122985965-chr7:73245079..73245829,2	Hela-S3	cervix:
15	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
16	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
17	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
18	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000256861	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000189143	Chromatin interaction
ENSG00000252192	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000025434	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55742122	0.86[AFR][1000 genomes]
rs56345648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56840285	0.81[AFR][1000 genomes]
rs56882949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58158680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58388699	0.86[AFR][1000 genomes]
rs58862482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59060380	1.00[AMR][1000 genomes]
rs60133756	0.95[AFR][1000 genomes]
rs61183779	0.87[AFR][1000 genomes]
rs7135827	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307858	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962592	1.00[AFR][1000 genomes];1.00[AMR][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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 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	chr12:122982200-122985800	Active TSS	GM12878-XiMat	blood
2	chr12:122982600-122985800	Active TSS	K562	blood
3	chr12:122982800-122985800	Active TSS	HSMMtube	muscle
4	chr12:122982800-122986000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:122983000-122985800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:122983400-122985800	Active TSS	Psoas Muscle	Psoas
7	chr12:122983600-122985800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:122983600-122985800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:122983600-122985800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:122983600-122985800	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:122983600-122985800	Active TSS	A549	lung
12	chr12:122983600-122985800	Active TSS	NH-A	brain
13	chr12:122983600-122986000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:122983600-122986000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:122983600-122986000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:122983600-122986000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:122983600-122986000	Active TSS	Brain Germinal Matrix	brain
18	chr12:122983600-122986000	Active TSS	HSMM	muscle
19	chr12:122983600-122986200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:122983800-122985800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:122983800-122985800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:122983800-122985800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:122983800-122985800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:122983800-122985800	Active TSS	Hela-S3	cervix
25	chr12:122983800-122985800	Active TSS	NHDF-Ad	bronchial
26	chr12:122983800-122986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:122983800-122986000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr12:122983800-122986000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:122983800-122986000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:122983800-122986000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:122983800-122986000	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:122983800-122986000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:122983800-122986000	Active TSS	HMEC	breast
34	chr12:122983800-122986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:122983800-122986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122983800-122986200	Active TSS	Fetal Lung	lung
37	chr12:122983800-122986200	Active TSS	Rectal Smooth Muscle	rectum
38	chr12:122983800-122986200	Active TSS	Osteobl	bone
39	chr12:122984000-122985800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:122984000-122985800	Active TSS	Colonic Mucosa	Colon
41	chr12:122984000-122985800	Active TSS	Fetal Intestine Small	intestine
42	chr12:122984000-122985800	Active TSS	NHEK	skin
43	chr12:122984000-122986000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:122984000-122986000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:122984000-122986000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:122984000-122986000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:122984000-122986000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:122984000-122986000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:122984000-122986000	Active TSS	Right Ventricle	heart
50	chr12:122984000-122986000	Active TSS	NHLF	lung

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