Variant report

Variant	rs7547208
Chromosome Location	chr1:84970057-84970058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:84969985-84972746	HCT-116	colon:	n/a	n/a
2	WRNIP1	chr1:84970013-84970657	GM12878	blood:	n/a	n/a
3	MXI1	chr1:84969756-84973236	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:84957385-84973725	K562	blood:	n/a	n/a
5	POLR2A	chr1:84970011-84973130	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:84968320-84972670	HepG2	liver:	n/a	n/a
7	TCF7L2	chr1:84969682-84970153	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:84969408-84972646	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:84968524-84972839	PANC-1	pancreas:	n/a	n/a
10	CEBPB	chr1:84970040-84972837	Hela-S3	cervix:	n/a	chr1:84971158-84971169 chr1:84971157-84971168 chr1:84971157-84971168 chr1:84971157-84971170 chr1:84971157-84971170
11	POLR2A	chr1:84969362-84973189	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:84968683-84972955	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:84969345-84972778	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr1:84968805-84973213	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:84969317-84972923	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:84970057-84970107	HCF	heart:	n/a
2	chr1:84970057-84970107	BJ	skin:	n/a
3	chr1:84970057-84970107	K562	blood:	n/a
4	chr1:84970057-84970107	NHBE	bronchial:	n/a
5	chr1:84970057-84970107	GM12892	blood:	n/a
6	chr1:84970057-84970107	HepG2	liver:	n/a
7	chr1:84970057-84970107	NT2-D1	testis:	n/a
8	chr1:84970057-84970107	NH-A	brain:	n/a
9	chr1:84970057-84970107	AG09319	gingival:	n/a
10	chr1:84970057-84970107	HCPEpiC	choroid plexus:	n/a
11	chr1:84970057-84970107	HRPEpiC	eye:	n/a
12	chr1:84970057-84970107	GM12878	blood:	n/a
13	chr1:84970057-84970107	SK-N-SH	brain:	n/a
14	chr1:84970057-84970107	GM19239	blood:	n/a
15	chr1:84970057-84970107	SKMC	muscle:	n/a
16	chr1:84970057-84970107	AG04450	lung:	fetal
17	chr1:84970057-84970107	HIPEpiC	eye:	n/a
18	chr1:84970057-84970107	AoSMC	blood vessel:	n/a
19	chr1:84970057-84970107	RPTEC	kidney:	n/a
20	chr1:84970057-84970107	MCF10A-Er-Src	breast:	n/a
21	chr1:84970057-84970107	SK-N-MC	brain:	n/a
22	chr1:84970057-84970107	Hela-S3	cervix:	n/a
23	chr1:84970057-84970107	Caco-2	colon:	n/a
24	chr1:84970057-84970107	ProgFib	skin:	n/a
25	chr1:84970057-84970107	Jurkat	blood:	n/a
26	chr1:84970057-84970107	SK-N-SH_RA	brain:	n/a
27	chr1:84970057-84970107	Hepatocyte	liver:	n/a
28	chr1:84970057-84970107	HMEC	breast:	n/a
29	chr1:84970057-84970107	MCF-7	breast:	n/a
30	chr1:84970057-84970107	NHDF-neo	bronchial:	n/a
31	chr1:84970057-84970107	GM06990	blood:	n/a
32	chr1:84970057-84970107	IMR90	lung:	fetal
33	chr1:84970057-84970107	AG10803	skin:	n/a
34	chr1:84970057-84970107	HAEpiC	amniotic membrane:	n/a
35	chr1:84970057-84970107	T-47D	breast:	n/a
36	chr1:84970057-84970107	HNPCEpiC	eye:	n/a
37	chr1:84970057-84970107	HRE	kidney:	n/a
38	chr1:84970057-84970107	LNCaP	prostate:	n/a
39	chr1:84970057-84970107	HEK293	kidney:	embryo
40	chr1:84970057-84970107	PANC-1	pancreas:	n/a
41	chr1:84970057-84970107	AG04449	skin:	fetal
42	chr1:84970057-84970107	HRCEpiC	kidney:	n/a
43	chr1:84970057-84970107	ECC-1	luminal epithelium:	n/a
44	chr1:84970057-84970107	HL-60	blood:	n/a
45	chr1:84970057-84970107	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:84970057-84970107	HEEpiC	esophagus:	n/a
47	chr1:84970057-84970107	NB4	blood:	n/a
48	chr1:84970057-84970107	HCM	heart:	n/a
49	chr1:84970057-84970107	PrEC	prostate:	n/a
50	chr1:84970057-84970107	H1-hESC	embryonic stem cell:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:
2	chr1:84543103..84544767-chr1:84969541..84972530,2	K562	blood:
3	chr1:84969596..84972494-chr1:85154864..85156849,3	K562	blood:
4	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
5	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:

No data

Variant related genes	Relation type
GNG5	TF binding region
SPATA1	TF binding region
GNG5	CpG island
SPATA1	CpG island
ENSG00000271576	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000142875	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493754	0.85[ASN][1000 genomes]
rs10874449	0.85[ASN][1000 genomes]
rs11163973	0.91[ASN][1000 genomes]
rs11163974	0.84[ASN][1000 genomes]
rs11163975	0.91[ASN][1000 genomes]
rs11163976	0.91[ASN][1000 genomes]
rs11163982	1.00[ASN][1000 genomes]
rs11163985	1.00[ASN][1000 genomes]
rs11163986	0.85[ASN][1000 genomes]
rs11163987	1.00[ASN][1000 genomes]
rs11163993	0.85[ASN][1000 genomes]
rs11164001	0.85[ASN][1000 genomes]
rs12075532	0.85[ASN][1000 genomes]
rs12354394	0.85[ASN][1000 genomes]
rs13093	1.00[ASN][1000 genomes]
rs17110164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110590	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110949	0.85[ASN][1000 genomes]
rs3768247	0.84[ASN][1000 genomes]
rs56876287	1.00[ASN][1000 genomes]
rs6576712	0.85[ASN][1000 genomes]
rs6576714	0.82[ASN][1000 genomes]
rs6658034	0.91[ASN][1000 genomes]
rs6658974	1.00[ASN][1000 genomes]
rs6660306	0.85[ASN][1000 genomes]
rs6662644	1.00[ASN][1000 genomes]
rs6662683	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666052	0.91[ASN][1000 genomes]
rs6666572	0.91[ASN][1000 genomes]
rs6668752	1.00[ASN][1000 genomes]
rs6669593	0.85[ASN][1000 genomes]
rs6676502	0.96[ASN][1000 genomes]
rs6684882	1.00[ASN][1000 genomes]
rs6688208	0.85[ASN][1000 genomes]
rs6690906	0.82[ASN][1000 genomes]
rs6701280	1.00[ASN][1000 genomes]
rs6704452	1.00[ASN][1000 genomes]
rs72948416	0.88[ASN][1000 genomes]
rs7524576	1.00[ASN][1000 genomes]
rs7532298	0.82[ASN][1000 genomes]
rs7539413	1.00[ASN][1000 genomes]
rs7541850	0.92[ASN][1000 genomes]
rs7541909	1.00[ASN][1000 genomes]
rs7551329	0.91[ASN][1000 genomes]
rs7555773	1.00[ASN][1000 genomes]
rs7555821	1.00[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7547208	CTBS	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:84951200-84971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:84956800-84970400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:84958600-84970400	Weak transcription	Lung	lung
6	chr1:84963800-84970200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:84963800-84970200	Weak transcription	Fetal Brain Male	brain
8	chr1:84963800-84970400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:84964000-84970200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:84965800-84970400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:84966800-84970400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:84967400-84970200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:84967400-84970600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:84967600-84970600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:84967800-84970600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:84968200-84970200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:84968200-84970600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:84968200-84970600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:84968400-84970400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:84968600-84970200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:84968600-84970200	Enhancers	Fetal Muscle Leg	muscle
22	chr1:84968600-84970600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84968600-84970600	Enhancers	Stomach Mucosa	stomach
24	chr1:84968600-84970800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:84968600-84971400	Active TSS	Right Atrium	heart
26	chr1:84968800-84970200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:84968800-84970400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:84968800-84970400	Enhancers	Small Intestine	intestine
29	chr1:84968800-84970600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:84968800-84970600	Flanking Active TSS	HUVEC	blood vessel
31	chr1:84968800-84973200	Active TSS	Right Ventricle	heart
32	chr1:84969000-84970200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:84969000-84970200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:84969000-84970600	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:84969000-84970600	Flanking Active TSS	Fetal Heart	heart
36	chr1:84969000-84970800	Transcr. at gene 5' and 3'	K562	blood
37	chr1:84969000-84973000	Active TSS	Left Ventricle	heart
38	chr1:84969200-84970200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:84969200-84970200	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:84969200-84970200	Enhancers	Fetal Thymus	thymus
41	chr1:84969200-84970200	Flanking Active TSS	NH-A	brain
42	chr1:84969200-84970400	Flanking Active TSS	Osteobl	bone
43	chr1:84969200-84970600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:84969200-84970800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:84969200-84970800	Flanking Active TSS	HMEC	breast
46	chr1:84969200-84970800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:84969200-84973200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:84969400-84970200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:84969400-84970200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:84969400-84970200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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