Variant report

Variant	rs3115941
Chromosome Location	chr8:94973515-94973516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:94972967-94973764	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr8:94972785-94974001	HCT-116	colon:	n/a	n/a
3	CTCF	chr8:94973171-94973563	K562	blood:	n/a	n/a
4	ZNF143	chr8:94973249-94973646	Hela-S3	cervix:	n/a	chr8:94973468-94973483
5	SMC3	chr8:94973147-94973540	HepG2	liver:	n/a	n/a
6	RUNX3	chr8:94973095-94973524	GM12878	blood:	n/a	n/a
7	RAD21	chr8:94973085-94973565	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:94973098-94973607	A549	lung:	n/a	n/a
9	RAD21	chr8:94973039-94973560	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr8:94973048-94973554	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr8:94972815-94973922	HCT-116	colon:	n/a	n/a
12	CTCF	chr8:94973114-94973517	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr8:94973213-94973526	K562	blood:	n/a	n/a
14	CTCF	chr8:94972987-94973644	MCF-7	breast:	n/a	n/a
15	SMC3	chr8:94973221-94973515	K562	blood:	n/a	n/a
16	RAD21	chr8:94973014-94973642	A549	lung:	n/a	n/a
17	CTCF	chr8:94973380-94973530	WI-38	lung:	n/a	n/a
18	CTCF	chr8:94973110-94973651	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:94973154-94973549	K562	blood:	n/a	n/a
20	SMC3	chr8:94972884-94974016	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr8:94972890-94973713	MCF-7	breast:	n/a	n/a
22	RAD21	chr8:94973148-94973547	A549	lung:	n/a	n/a
23	RAD21	chr8:94973011-94973664	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:94973120-94973571	T-47D	breast:	n/a	n/a
25	SP1	chr8:94970918-94973686	HCT-116	colon:	n/a	chr8:94972179-94972186
26	CTCF	chr8:94973380-94973530	HFF-Myc	foreskin:	n/a	n/a
27	RAD21	chr8:94973052-94973637	IMR90	lung:	n/a	n/a
28	RAD21	chr8:94973099-94973529	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr8:94972640-94973968	A549	lung:	n/a	n/a
30	RAD21	chr8:94973121-94973522	GM12878	blood:	n/a	n/a
31	CTCF	chr8:94973034-94973747	HCT-116	colon:	n/a	n/a
32	RAD21	chr8:94972932-94973781	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr8:94972976-94974164	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr8:94973380-94973530	GM12872	blood:	n/a	n/a
35	TCF12	chr8:94973071-94973583	A549	lung:	n/a	n/a
36	ZNF143	chr8:94973184-94973530	GM12878	blood:	n/a	chr8:94973468-94973483
37	RAD21	chr8:94971350-94973783	HCT-116	colon:	n/a	n/a
38	BRCA1	chr8:94973174-94973548	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr8:94973171-94973564	H1-hESC	embryonic stem cell:	n/a	n/a
40	SMC3	chr8:94973098-94973546	GM12878	blood:	n/a	n/a
41	RAD21	chr8:94973087-94973632	HepG2	liver:	n/a	n/a
42	CTCF	chr8:94973134-94973553	A549	lung:	n/a	n/a
43	RAD21	chr8:94973062-94973600	GM12878	blood:	n/a	n/a
44	CTCF	chr8:94973195-94973535	HepG2	liver:	n/a	n/a
45	RAD21	chr8:94973057-94973602	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr8:94973172-94973528	K562	blood:	n/a	n/a
47	CTCF	chr8:94973141-94973596	GM12878	blood:	n/a	n/a
48	CUX1	chr8:94973011-94973524	GM12878	blood:	n/a	n/a
49	MAZ	chr8:94973248-94973520	GM12878	blood:	n/a	n/a
50	RAD21	chr8:94973163-94973562	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:94832955..94835599-chr8:94972783..94974744,2	MCF-7	breast:
2	chr8:94705975..94707090-chr8:94972855..94974318,9	MCF-7	breast:
3	chr8:94927400..94930777-chr8:94970323..94974580,5	MCF-7	breast:
4	chr8:94706075..94706748-chr8:94973244..94973871,2	K562	blood:
5	chr8:94834311..94835447-chr8:94972495..94973869,10	MCF-7	breast:
6	chr8:94965588..94968919-chr8:94970973..94974619,3	MCF-7	breast:
7	chr8:94834077..94835230-chr8:94972631..94974077,23	MCF-7	breast:
8	chr8:94834218..94834817-chr8:94972873..94973772,4	K562	blood:
9	chr8:94705945..94706920-chr8:94972856..94973788,3	MCF-7	breast:
10	chr8:94833059..94835938-chr8:94971405..94974689,3	MCF-7	breast:

No data

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

Extended variants
information (count: 65 )
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];0.88[CHD][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16916327	0.85[ASN][1000 genomes]
rs3115916	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115917	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	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115946	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133986	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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133998	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133999	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134002	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134003	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[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];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134006	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]
rs3134007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[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];0.92[YRI][hapmap];0.95[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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134011	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]
rs3134013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134016	0.85[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	0.95[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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523005	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62523006	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523009	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62523010	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62523011	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523014	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523015	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523016	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523017	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523018	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523019	0.84[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];0.85[GIH][hapmap];0.83[TSI][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];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840040	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94968600-94973600	Enhancers	Fetal Intestine Small	intestine
2	chr8:94970200-94973800	Enhancers	HUVEC	blood vessel
3	chr8:94970600-94975200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:94971400-94973800	Enhancers	Adipose Nuclei	Adipose
5	chr8:94971600-94973600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:94971600-94973800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:94971600-94973800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:94971800-94973600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:94971800-94973600	Enhancers	Stomach Mucosa	stomach
10	chr8:94972200-94974000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:94972400-94973800	Enhancers	Brain Substantia Nigra	brain
12	chr8:94972400-94974000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:94972600-94973800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:94972600-94973800	Enhancers	Psoas Muscle	Psoas
15	chr8:94972600-94974000	Enhancers	Fetal Muscle Leg	muscle
16	chr8:94972600-94974000	Enhancers	Right Atrium	heart
17	chr8:94972800-94973800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:94972800-94973800	Enhancers	Fetal Lung	lung
19	chr8:94972800-94973800	Enhancers	Osteobl	bone
20	chr8:94973000-94973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:94973000-94973600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:94973000-94973600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:94973000-94973600	Enhancers	HSMM	muscle
24	chr8:94973000-94973800	Enhancers	Brain Hippocampus Middle	brain
25	chr8:94973000-94973800	Enhancers	HSMMtube	muscle
26	chr8:94973000-94973800	Enhancers	NHDF-Ad	bronchial
27	chr8:94973000-94974000	Enhancers	NHEK	skin
28	chr8:94973200-94973600	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:94973200-94973600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:94973200-94973600	Enhancers	Brain Anterior Caudate	brain
31	chr8:94973200-94973600	Enhancers	Ovary	ovary
32	chr8:94973200-94974000	Enhancers	Left Ventricle	heart
33	chr8:94973400-94973600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:94973400-94973600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:94973400-94973600	Enhancers	HMEC	breast
36	chr8:94973400-94973600	Weak transcription	NH-A	brain
37	chr8:94973400-94973800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:94973400-94973800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:94973400-94973800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:94973400-94973800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:94973400-94974000	Enhancers	Colon Smooth Muscle	Colon

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