Variant report

Variant	rs12537143
Chromosome Location	chr7:116516925-116516926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:116516713-116517275	K562	blood:	n/a	n/a
2	MAX	chr7:116516733-116517181	K562	blood:	n/a	n/a
3	TRIM28	chr7:116516697-116517634	K562	blood:	n/a	n/a
4	MYC	chr7:116516553-116517791	K562	blood:	n/a	n/a
5	POLR2A	chr7:116516789-116517154	HUVEC	blood vessel:	n/a	n/a
6	KAP1	chr7:116516549-116517515	K562	blood:	n/a	n/a
7	EP300	chr7:116516399-116517920	K562	blood:	n/a	n/a
8	CTCF	chr7:116516683-116517097	K562	blood:	n/a	n/a
9	MEF2A	chr7:116516781-116517341	K562	blood:	n/a	n/a
10	CTCF	chr7:116516892-116516961	Pancreas_OC	pancreas:	n/a	n/a
11	TBL1XR1	chr7:116516483-116517752	K562	blood:	n/a	n/a
12	POLR2A	chr7:116516365-116517685	K562	blood:	n/a	n/a
13	NR2F2	chr7:116516556-116517824	K562	blood:	n/a	chr7:116517352-116517367
14	CTCF	chr7:116516855-116517004	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr7:116516755-116517642	K562	blood:	n/a	n/a
16	IRF1	chr7:116516771-116517604	K562	blood:	n/a	n/a
17	POLR2A	chr7:116516625-116517288	K562	blood:	n/a	n/a
18	IRF1	chr7:116516587-116518022	K562	blood:	n/a	n/a
19	MEF2A	chr7:116516702-116517313	K562	blood:	n/a	n/a
20	POLR2A	chr7:116516631-116517539	K562	blood:	n/a	n/a
21	ZNF263	chr7:116516621-116517291	HEK293-T-REx	kidney:	n/a	n/a
22	MAFK	chr7:116516726-116517674	K562	blood:	n/a	n/a
23	CTCF	chr7:116516820-116516970	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:116516900-116517050	K562	blood:	n/a	n/a
25	TAF7	chr7:116516880-116517284	K562	blood:	n/a	n/a
26	CTCF	chr7:116516633-116517715	K562	blood:	n/a	n/a
27	JUN	chr7:116516749-116517633	K562	blood:	n/a	n/a
28	CTCF	chr7:116516843-116517043	IMR90	lung:	n/a	n/a
29	NRF1	chr7:116516706-116517233	K562	blood:	n/a	n/a
30	CTCF	chr7:116516900-116517050	SK-N-SH_RA	brain:	n/a	n/a
31	BCL3	chr7:116516589-116517451	K562	blood:	n/a	n/a
32	POLR2A	chr7:116516767-116517266	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr7:116516840-116516990	HCPEpiC	choroid plexus:	n/a	n/a
34	SMARCB1	chr7:116516500-116517663	K562	blood:	n/a	n/a
35	CTCF	chr7:116516840-116516990	HRPEpiC	eye:	n/a	n/a
36	TAF1	chr7:116516801-116517231	K562	blood:	n/a	n/a
37	CTCFL	chr7:116516741-116517055	K562	blood:	n/a	n/a
38	GATA2	chr7:116516732-116517701	K562	blood:	n/a	chr7:116517117-116517131 chr7:116517064-116517078
39	POLR2A	chr7:116516671-116517628	K562	blood:	n/a	n/a
40	CTCF	chr7:116516820-116516970	HCPEpiC	choroid plexus:	n/a	n/a
41	JUN	chr7:116516498-116517792	K562	blood:	n/a	n/a
42	MYC	chr7:116516845-116517124	HUVEC	blood vessel:	n/a	n/a
43	REST	chr7:116516790-116517295	K562	blood:	n/a	n/a
44	RAD21	chr7:116516785-116517034	K562	blood:	n/a	n/a
45	POLR2A	chr7:116516403-116517911	HUVEC	blood vessel:	n/a	n/a
46	IRF1	chr7:116516669-116517813	K562	blood:	n/a	n/a
47	CTCF	chr7:116516820-116517060	K562	blood:	n/a	n/a
48	UBTF	chr7:116516676-116517542	K562	blood:	n/a	n/a
49	CEBPB	chr7:116516839-116517754	K562	blood:	n/a	n/a
50	ARID3A	chr7:116516475-116518078	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116515300..116517420-chr7:116591402..116594078,3	K562	blood:
2	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
3	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
4	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
5	chr7:116515467..116517553-chr7:116591140..116593900,3	K562	blood:
6	chr7:116500082..116503842-chr7:116515531..116518522,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235945	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11977452	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12666016	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap]
rs2074025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7778381	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7800249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7803820	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs7807976	0.82[JPT][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs9649395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649396	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9791495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12537143	MET	cis	Artery Aorta	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
5	chr7:116505000-116517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
7	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:116511200-116528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:116511400-116525400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:116511400-116528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:116512000-116545400	Weak transcription	NHLF	lung
17	chr7:116512200-116519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:116512200-116529400	Weak transcription	Osteobl	bone
19	chr7:116512800-116519000	Strong transcription	Primary B cells from cord blood	blood
20	chr7:116513200-116528400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:116513400-116518000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:116513600-116528600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:116513800-116517000	Strong transcription	GM12878-XiMat	blood
24	chr7:116514000-116525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:116514200-116528200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:116514400-116517600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:116514400-116517800	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:116514400-116518400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:116514400-116524600	Weak transcription	Placenta	Placenta
30	chr7:116514400-116528000	Weak transcription	HSMM	muscle
31	chr7:116514400-116530600	Weak transcription	HMEC	breast
32	chr7:116514400-116531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:116514600-116517000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:116514600-116517200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:116514600-116517200	Strong transcription	Dnd41	blood
36	chr7:116514600-116525400	Weak transcription	Thymus	Thymus
37	chr7:116514600-116525600	Weak transcription	A549	lung
38	chr7:116514600-116537800	Weak transcription	NHEK	skin
39	chr7:116514800-116517000	Weak transcription	Gastric	stomach
40	chr7:116514800-116517400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:116514800-116518000	Enhancers	Left Ventricle	heart
42	chr7:116514800-116518800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:116514800-116526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:116515200-116517000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:116515200-116525400	Weak transcription	Spleen	Spleen
46	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:116515600-116517000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:116515600-116517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:116515600-116518200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:116516000-116524600	Weak transcription	Fetal Muscle Trunk	muscle

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