Variant report

Variant	rs3134006
Chromosome Location	chr8:94971597-94971598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:94971544-94971948	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr8:94971540-94971690	BJ	skin:	n/a	n/a
3	PBX3	chr8:94971521-94972028	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:94971503-94972219	SK-N-SH	brain:	n/a	n/a
5	SP1	chr8:94971261-94972185	HCT-116	colon:	n/a	n/a
6	EP300	chr8:94971545-94971985	ECC-1	luminal epithelium:	n/a	n/a
7	GATA3	chr8:94971596-94972177	SK-N-SH	brain:	n/a	n/a
8	STAT3	chr8:94971548-94971943	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr8:94971520-94971670	AG04450	lung:	n/a	n/a
10	POLR2A	chr8:94971532-94971959	HUVEC	blood vessel:	n/a	n/a
11	NFIC	chr8:94971447-94972127	SK-N-SH	brain:	n/a	n/a
12	FOS	chr8:94971479-94972231	HUVEC	blood vessel:	n/a	n/a
13	TCF12	chr8:94971454-94972245	SK-N-SH	brain:	n/a	n/a
14	SP1	chr8:94970918-94973686	HCT-116	colon:	n/a	chr8:94972179-94972186
15	EP300	chr8:94971510-94972022	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr8:94971520-94971670	HAc	cerebellar:	n/a	n/a
17	RAD21	chr8:94971350-94973783	HCT-116	colon:	n/a	n/a
18	JUN	chr8:94971587-94972016	HUVEC	blood vessel:	n/a	n/a
19	PBX3	chr8:94971525-94972127	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr8:94971557-94972056	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr8:94971515-94971712	MCF10A-Er-Src	breast:	n/a	n/a
22	YY1	chr8:94971564-94971928	HCT-116	colon:	n/a	n/a
23	POLR2A	chr8:94971560-94971990	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:94971580-94971913	HCT-116	colon:	n/a	n/a
25	MAX	chr8:94971538-94972021	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr8:94971463-94972096	HCT-116	colon:	n/a	n/a
27	CTCF	chr8:94971500-94971650	HFF	foreskin:	n/a	n/a
28	MAX	chr8:94971579-94971926	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr8:94971533-94971893	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr8:94971458-94972048	HUVEC	blood vessel:	n/a	n/a
31	GATA2	chr8:94971585-94971977	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:94834374..94834944-chr8:94970861..94971627,2	MCF-7	breast:
2	chr8:94927400..94930777-chr8:94970323..94974580,5	MCF-7	breast:
3	chr8:94965588..94968919-chr8:94970973..94974619,3	MCF-7	breast:
4	chr8:94927101..94932217-chr8:94967169..94973451,6	MCF-7	breast:
5	chr8:94833059..94835938-chr8:94971405..94974689,3	MCF-7	breast:
6	chr8:94836556..94838849-chr8:94970213..94972114,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL34P18	TF binding region
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs16916320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16916327	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3115916	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115917	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115918	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115919	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115920	0.87[ASN][1000 genomes]
rs3115921	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs3115926	1.00[EUR][1000 genomes]
rs3115927	1.00[EUR][1000 genomes]
rs3115931	1.00[EUR][1000 genomes]
rs3115936	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115937	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133986	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133988	1.00[EUR][1000 genomes]
rs3133989	1.00[EUR][1000 genomes]
rs3133990	1.00[EUR][1000 genomes]
rs3133993	1.00[EUR][1000 genomes]
rs3133997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133998	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133999	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134002	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134016	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55691744	1.00[EUR][1000 genomes]
rs55914182	1.00[EUR][1000 genomes]
rs58454714	1.00[EUR][1000 genomes]
rs58866863	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59023505	1.00[EUR][1000 genomes]
rs59797932	1.00[EUR][1000 genomes]
rs61294318	1.00[EUR][1000 genomes]
rs61495155	0.89[EUR][1000 genomes]
rs61708878	1.00[EUR][1000 genomes]
rs62522980	1.00[EUR][1000 genomes]
rs62522989	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62523006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523009	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62523010	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62523011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523017	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523018	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523019	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6983462	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6989092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs6997830	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7006289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv982128	chr8:94966644-94973304	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94965600-94971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:94968000-94973200	Weak transcription	Ovary	ovary
3	chr8:94968000-94973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:94968600-94973400	Enhancers	Fetal Intestine Large	intestine
5	chr8:94968600-94973600	Enhancers	Fetal Intestine Small	intestine
6	chr8:94970200-94973800	Enhancers	HUVEC	blood vessel
7	chr8:94970600-94971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:94970600-94971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:94970600-94971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:94970600-94971600	Weak transcription	Pancreas	Pancrea
11	chr8:94970600-94971600	Weak transcription	HMEC	breast
12	chr8:94970600-94971800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:94970600-94971800	Weak transcription	Stomach Mucosa	stomach
14	chr8:94970600-94972200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:94970600-94972600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:94970600-94972800	Weak transcription	Fetal Lung	lung
17	chr8:94970600-94973000	Weak transcription	HSMM	muscle
18	chr8:94970600-94973000	Weak transcription	NHDF-Ad	bronchial
19	chr8:94970600-94973200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:94970600-94975200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:94970800-94972400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:94970800-94973000	Weak transcription	HSMMtube	muscle
23	chr8:94971000-94971800	Enhancers	Left Ventricle	heart
24	chr8:94971200-94972200	Enhancers	NH-A	brain
25	chr8:94971200-94972600	Weak transcription	Psoas Muscle	Psoas
26	chr8:94971200-94973400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:94971400-94971600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:94971400-94972200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:94971400-94972400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:94971400-94972400	Enhancers	Osteobl	bone
31	chr8:94971400-94973400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:94971400-94973800	Enhancers	Adipose Nuclei	Adipose

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