Variant report

Variant	rs7160073
Chromosome Location	chr14:65450630-65450631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:198)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:198 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:65450303-65450907	HCT-116	colon:	n/a	n/a
2	CTCF	chr14:65450560-65450710	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr14:65450500-65450650	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr14:65450347-65450888	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:65450540-65450690	HMEC	breast:	n/a	n/a
6	CTCF	chr14:65450540-65450690	HVMF	connective:	n/a	n/a
7	CTCF	chr14:65450485-65450735	Medullo	brain:	n/a	n/a
8	CTCF	chr14:65450540-65450690	AG04449	skin:	n/a	n/a
9	CTCF	chr14:65450520-65450670	GM12870	blood:	n/a	n/a
10	CTCF	chr14:65450560-65450710	HCT-116	colon:	n/a	n/a
11	RFX5	chr14:65450479-65450775	Hela-S3	cervix:	n/a	n/a
12	MAX	chr14:65450463-65450630	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:65450520-65450670	HPF	lung:	n/a	n/a
14	CTCF	chr14:65450520-65450670	GM12864	blood:	n/a	n/a
15	CTCF	chr14:65450580-65450730	GM06990	blood:	n/a	n/a
16	CTCF	chr14:65450493-65450761	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr14:65450580-65450730	Caco-2	colon:	n/a	n/a
18	CTCF	chr14:65450560-65450710	HFF	foreskin:	n/a	n/a
19	SMC3	chr14:65450443-65450780	HepG2	liver:	n/a	n/a
20	RAD21	chr14:65450303-65450890	A549	lung:	n/a	n/a
21	CTCF	chr14:65450520-65450670	GM12869	blood:	n/a	n/a
22	CTCF	chr14:65450540-65450690	NHLF	lung:	n/a	n/a
23	CTCF	chr14:65450560-65450710	Caco-2	colon:	n/a	n/a
24	CTCF	chr14:65450510-65450725	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:65450500-65450650	NHEK	skin:	n/a	n/a
26	CTCF	chr14:65450560-65450710	GM12872	blood:	n/a	n/a
27	RAD21	chr14:65450405-65450804	IMR90	lung:	n/a	n/a
28	CTCF	chr14:65450491-65450697	Gliobla	brain:	n/a	n/a
29	RUNX3	chr14:65450418-65450769	GM12878	blood:	n/a	n/a
30	CTCF	chr14:65450540-65450690	GM12872	blood:	n/a	n/a
31	CTCF	chr14:65450497-65450716	LNCaP	prostate:	n/a	n/a
32	STAT3	chr14:65450495-65450643	MCF10A-Er-Src	breast:	n/a	n/a
33	CTCF	chr14:65450540-65450690	HRE	kidney:	n/a	n/a
34	CTCF	chr14:65450540-65450690	BE2_C	brain:	n/a	n/a
35	CTCF	chr14:65450600-65450750	GM12871	blood:	n/a	n/a
36	CTCF	chr14:65450520-65450670	HEK293	kidney:	n/a	n/a
37	CTCF	chr14:65450533-65450725	GM13976	blood:	n/a	n/a
38	CTCF	chr14:65450524-65450660	GM19240	blood:	n/a	n/a
39	E2F4	chr14:65450620-65450785	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr14:65450500-65450650	GM12801	blood:	n/a	n/a
41	CTCF	chr14:65450500-65450650	GM12875	blood:	n/a	n/a
42	CTCF	chr14:65450376-65450781	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr14:65450560-65450710	HCFaa	heart:	n/a	n/a
44	RAD21	chr14:65450314-65450992	MCF-7	breast:	n/a	n/a
45	RAD21	chr14:65450370-65450775	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr14:65450520-65450670	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr14:65450528-65450704	GM10266	blood:	n/a	n/a
48	RAD21	chr14:65450349-65450866	HepG2	liver:	n/a	n/a
49	CTCF	chr14:65450580-65450730	RPTEC	kidney:	n/a	n/a
50	CTCF	chr14:65450620-65450770	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65450614-65450664	AG04450	lung:	fetal
2	chr14:65450614-65450664	T-47D	breast:	n/a
3	chr14:65450614-65450664	ProgFib	skin:	n/a
4	chr14:65450614-65450664	HCPEpiC	choroid plexus:	n/a
5	chr14:65450614-65450664	SAEC	small airway:	n/a
6	chr14:65450614-65450664	ECC-1	luminal epithelium:	n/a
7	chr14:65450614-65450664	AG10803	skin:	n/a
8	chr14:65450614-65450664	LNCaP	prostate:	n/a
9	chr14:65450614-65450664	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:65450614-65450664	HUVEC	blood vessel:	n/a
11	chr14:65450614-65450664	SKMC	muscle:	n/a
12	chr14:65450614-65450664	NT2-D1	testis:	n/a
13	chr14:65450614-65450664	GM12878	blood:	n/a
14	chr14:65450614-65450664	SK-N-SH_RA	brain:	n/a
15	chr14:65450614-65450664	HRCEpiC	kidney:	n/a
16	chr14:65450614-65450664	HepG2	liver:	n/a
17	chr14:65450614-65450664	IMR90	lung:	fetal
18	chr14:65450614-65450664	NH-A	brain:	n/a
19	chr14:65450614-65450664	Hela-S3	cervix:	n/a
20	chr14:65450614-65450664	GM06990	blood:	n/a
21	chr14:65450614-65450664	HIPEpiC	eye:	n/a
22	chr14:65450614-65450664	BJ	skin:	n/a
23	chr14:65450614-65450664	HNPCEpiC	eye:	n/a
24	chr14:65450614-65450664	MCF10A-Er-Src	breast:	n/a
25	chr14:65450614-65450664	HRE	kidney:	n/a
26	chr14:65450614-65450664	SK-N-MC	brain:	n/a
27	chr14:65450614-65450664	MCF-7	breast:	n/a
28	chr14:65450614-65450664	U87	brain:	n/a
29	chr14:65450614-65450664	GM12892	blood:	n/a
30	chr14:65450614-65450664	Caco-2	colon:	n/a
31	chr14:65450614-65450664	GM19239	blood:	n/a
32	chr14:65450614-65450664	PANC-1	pancreas:	n/a
33	chr14:65450614-65450664	PrEC	prostate:	n/a
34	chr14:65450614-65450664	K562	blood:	n/a
35	chr14:65450614-65450664	HCM	heart:	n/a
36	chr14:65450614-65450664	AoSMC	blood vessel:	n/a
37	chr14:65450614-65450664	A549	lung:	n/a
38	chr14:65450614-65450664	NHBE	bronchial:	n/a
39	chr14:65450614-65450664	Jurkat	blood:	n/a
40	chr14:65450614-65450664	HAEpiC	amniotic membrane:	n/a
41	chr14:65450614-65450664	HEEpiC	esophagus:	n/a
42	chr14:65450614-65450664	AG09319	gingival:	n/a
43	chr14:65450614-65450664	ovcar-3	ovarian:	n/a
44	chr14:65450614-65450664	HCT-116	colon:	n/a
45	chr14:65450614-65450664	Hepatocyte	liver:	n/a
46	chr14:65450614-65450664	AG04449	skin:	fetal
47	chr14:65450614-65450664	NB4	blood:	n/a
48	chr14:65450614-65450664	HEK293	kidney:	embryo
49	chr14:65450614-65450664	NHDF-neo	bronchial:	n/a
50	chr14:65450614-65450664	RPTEC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65268004..65268870-chr14:65450202..65451035,3	K562	blood:
2	chr14:65437470..65440876-chr14:65446847..65451096,5	MCF-7	breast:
3	chr14:65238451..65239528-chr14:65450464..65451490,3	MCF-7	breast:
4	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:
5	chr14:65289621..65290600-chr14:65450465..65451074,3	MCF-7	breast:
6	chr14:65450129..65451062-chr14:65486362..65487163,3	MCF-7	breast:
7	chr14:65226282..65227169-chr14:65450174..65450950,2	MCF-7	breast:
8	chr14:65449396..65452013-chr14:65452277..65456191,3	K562	blood:
9	chr14:65377331..65378166-chr14:65449998..65450968,5	MCF-7	breast:
10	chr14:65404338..65405141-chr14:65450202..65451438,3	MCF-7	breast:
11	chr14:65435373..65439522-chr14:65449572..65455038,8	MCF-7	breast:
12	chr14:65381014..65382741-chr14:65448776..65450867,2	MCF-7	breast:
13	chr14:65447542..65451008-chr14:65452135..65454598,3	MCF-7	breast:
14	chr14:65376890..65379070-chr14:65449089..65451973,3	MCF-7	breast:
15	chr14:65380980..65382941-chr14:65450288..65451941,2	MCF-7	breast:

No data

Variant related genes	Relation type
FNTB	TF binding region
FNTB	CpG island
ENSG00000257365	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10132686	0.81[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623866	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.80[MEX][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499147	0.85[CEU][hapmap]
rs61160081	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7160073	FNTB	cis	cerebellum	SCAN
rs7160073	RAB15	cis	cerebellum	SCAN
rs7160073	GPX2	cis	cerebellum	SCAN
rs7160073	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs7160073	CHURC1	cis	Artery Tibial	GTEx
rs7160073	CHURC1	cis	lymphoblastoid	seeQTL
rs7160073	MAX	cis	cerebellum	SCAN
rs7160073	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs7160073	CHURC1	cis	cerebellum	SCAN
rs7160073	CHURC1	cis	Whole Blood	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65439600-65453600	Weak transcription	Aorta	Aorta
2	chr14:65446600-65453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65446600-65453600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:65446800-65453000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:65446800-65453000	Weak transcription	Fetal Intestine Large	intestine
6	chr14:65446800-65453200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:65446800-65453200	Weak transcription	Placenta	Placenta
8	chr14:65450200-65450800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:65450200-65451000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:65450200-65451000	Enhancers	Adipose Nuclei	Adipose
11	chr14:65450200-65451000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:65450400-65450800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:65450400-65453000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65450400-65453000	Weak transcription	Brain Substantia Nigra	brain
15	chr14:65450400-65453000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:65450600-65450800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:65450600-65450800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:65450600-65450800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr14:65450600-65451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:65450600-65451000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:65450600-65451000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr14:65450600-65451000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:65450600-65451000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:65450600-65451000	Enhancers	Fetal Lung	lung
25	chr14:65450600-65451200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:65450600-65451400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:65450600-65451400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:65450600-65451600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:65450600-65452600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:65450600-65452600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:65450600-65452600	Weak transcription	Dnd41	blood
32	chr14:65450600-65452600	Weak transcription	Hela-S3	cervix
33	chr14:65450600-65452800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:65450600-65452800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:65450600-65452800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:65450600-65452800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:65450600-65452800	Weak transcription	Brain Angular Gyrus	brain
38	chr14:65450600-65452800	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:65450600-65452800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:65450600-65452800	Weak transcription	Fetal Heart	heart
41	chr14:65450600-65452800	Weak transcription	Fetal Intestine Small	intestine
42	chr14:65450600-65452800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:65450600-65452800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:65450600-65452800	Weak transcription	A549	lung
45	chr14:65450600-65452800	Weak transcription	GM12878-XiMat	blood
46	chr14:65450600-65452800	Weak transcription	HepG2	liver
47	chr14:65450600-65452800	Weak transcription	HMEC	breast
48	chr14:65450600-65452800	Weak transcription	K562	blood
49	chr14:65450600-65453000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:65450600-65453000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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