Variant report

Variant	rs2278950
Chromosome Location	chr17:33905574-33905575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:534)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr17:33904821-33906118	GM12878	blood:	n/a	n/a
2	GABPA	chr17:33905130-33905953	Hela-S3	cervix:	n/a	chr17:33905500-33905509
3	USF1	chr17:33905441-33905836	K562	blood:	n/a	n/a
4	POLR2A	chr17:33904641-33906019	MCF10A-Er-Src	breast:	n/a	n/a
5	ATF3	chr17:33905187-33906025	A549	lung:	n/a	chr17:33905504-33905513
6	ZBTB33	chr17:33905380-33905834	A549	lung:	n/a	n/a
7	TAF1	chr17:33905387-33906066	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:33904548-33906636	SK-N-SH	brain:	n/a	n/a
9	MYC	chr17:33905290-33906123	K562	blood:	n/a	chr17:33905388-33905398
10	POLR2A	chr17:33904820-33906109	Hela-S3	cervix:	n/a	n/a
11	MYC	chr17:33904754-33905982	K562	blood:	n/a	chr17:33905388-33905398
12	POLR2A	chr17:33905155-33906031	GM12878	blood:	n/a	n/a
13	MYBL2	chr17:33905175-33906062	HepG2	liver:	n/a	n/a
14	IRF4	chr17:33905259-33905933	GM12878	blood:	n/a	n/a
15	MAX	chr17:33905323-33905980	H1-hESC	embryonic stem cell:	n/a	chr17:33905388-33905398
16	POLR2A	chr17:33904747-33906624	GM12878	blood:	n/a	n/a
17	CTCF	chr17:33905446-33905833	K562	blood:	n/a	n/a
18	ATF3	chr17:33905300-33905921	A549	lung:	n/a	chr17:33905504-33905513
19	RUNX3	chr17:33904779-33906349	GM12878	blood:	n/a	n/a
20	SIX5	chr17:33905386-33905816	K562	blood:	n/a	n/a
21	POLR2A	chr17:33905326-33905957	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr17:33904755-33906472	K562	blood:	n/a	chr17:33905388-33905398
23	PML	chr17:33904807-33906455	GM12878	blood:	n/a	n/a
24	ETS1	chr17:33905242-33905862	A549	lung:	n/a	chr17:33905500-33905511 chr17:33905707-33905720
25	HA-E2F1	chr17:33905019-33905985	MCF-7	breast:	n/a	chr17:33905500-33905509 chr17:33905714-33905726
26	POLR2A	chr17:33905113-33906176	Hela-S3	cervix:	n/a	n/a
27	MAX	chr17:33905191-33906230	ECC-1	luminal epithelium:	n/a	chr17:33905388-33905398
28	POLR2A	chr17:33903526-33906572	U87	brain:	n/a	n/a
29	SIN3AK20	chr17:33905167-33906063	SK-N-SH	brain:	n/a	n/a
30	RCOR1	chr17:33905445-33905951	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:33904710-33906141	U87	brain:	n/a	n/a
32	POLR2A	chr17:33904686-33906020	HUVEC	blood vessel:	n/a	n/a
33	TBP	chr17:33904867-33906388	K562	blood:	n/a	n/a
34	STAT3	chr17:33905382-33905845	MCF10A-Er-Src	breast:	n/a	chr17:33905604-33905615
35	NR2F2	chr17:33904845-33906152	K562	blood:	n/a	n/a
36	TAF1	chr17:33905439-33906053	A549	lung:	n/a	n/a
37	THAP1	chr17:33905308-33905874	K562	blood:	n/a	n/a
38	MAX	chr17:33905200-33906175	SK-N-SH	brain:	n/a	chr17:33905388-33905398
39	ATF2	chr17:33905327-33905884	GM12878	blood:	n/a	n/a
40	GTF2B	chr17:33905296-33906181	K562	blood:	n/a	n/a
41	NFIC	chr17:33905448-33906023	HepG2	liver:	n/a	n/a
42	YY1	chr17:33905338-33905852	A549	lung:	n/a	n/a
43	GTF2F1	chr17:33905417-33905899	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr17:33905407-33905897	GM12892	blood:	n/a	n/a
45	TBL1XR1	chr17:33905200-33905933	K562	blood:	n/a	n/a
46	CHD1	chr17:33905341-33906048	GM12878	blood:	n/a	n/a
47	SIX5	chr17:33905422-33905818	K562	blood:	n/a	n/a
48	ETS1	chr17:33905220-33905918	K562	blood:	n/a	chr17:33905500-33905511 chr17:33905707-33905720
49	SIN3AK20	chr17:33905232-33906050	MCF-7	breast:	n/a	n/a
50	YY1	chr17:33905393-33905871	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33905541-33905591	T-47D	breast:	n/a
2	chr17:33905541-33905591	SKMC	muscle:	n/a
3	chr17:33905541-33905591	GM12878	blood:	n/a
4	chr17:33905541-33905591	AoSMC	blood vessel:	n/a
5	chr17:33905541-33905591	AG09309	skin:	n/a
6	chr17:33905541-33905591	H1-hESC	embryonic stem cell:	embryo
7	chr17:33905541-33905591	SK-N-SH_RA	brain:	n/a
8	chr17:33905541-33905591	HEEpiC	esophagus:	n/a
9	chr17:33905541-33905591	GM06990	blood:	n/a
10	chr17:33905541-33905591	SK-N-SH	brain:	n/a
11	chr17:33905541-33905591	ovcar-3	ovarian:	n/a
12	chr17:33905541-33905591	HNPCEpiC	eye:	n/a
13	chr17:33905541-33905591	LNCaP	prostate:	n/a
14	chr17:33905541-33905591	HEK293	kidney:	embryo
15	chr17:33905541-33905591	ECC-1	luminal epithelium:	n/a
16	chr17:33905541-33905591	PFSK-1	brain:	n/a
17	chr17:33905541-33905591	HMEC	breast:	n/a
18	chr17:33905541-33905591	Hela-S3	cervix:	n/a
19	chr17:33905541-33905591	AG10803	skin:	n/a
20	chr17:33905541-33905591	IMR90	lung:	fetal
21	chr17:33905541-33905591	GM19239	blood:	n/a
22	chr17:33905541-33905591	AG04450	lung:	fetal
23	chr17:33905541-33905591	CMK	blood:	n/a
24	chr17:33905541-33905591	BJ	skin:	n/a
25	chr17:33905541-33905591	AG04449	skin:	fetal
26	chr17:33905541-33905591	PrEC	prostate:	n/a
27	chr17:33905541-33905591	PANC-1	pancreas:	n/a
28	chr17:33905541-33905591	U87	brain:	n/a
29	chr17:33905541-33905591	A549	lung:	n/a
30	chr17:33905541-33905591	GM12891	blood:	n/a
31	chr17:33905541-33905591	HRPEpiC	eye:	n/a
32	chr17:33905541-33905591	HUVEC	blood vessel:	n/a
33	chr17:33905541-33905591	Hepatocyte	liver:	n/a
34	chr17:33905541-33905591	SK-N-MC	brain:	n/a
35	chr17:33905541-33905591	HAEpiC	amniotic membrane:	n/a
36	chr17:33905541-33905591	HCF	heart:	n/a
37	chr17:33905541-33905591	MCF10A-Er-Src	breast:	n/a
38	chr17:33905541-33905591	RPTEC	kidney:	n/a
39	chr17:33905541-33905591	MCF-7	breast:	n/a
40	chr17:33905541-33905591	Caco-2	colon:	n/a
41	chr17:33905541-33905591	Jurkat	blood:	n/a
42	chr17:33905541-33905591	NB4	blood:	n/a
43	chr17:33905541-33905591	HRCEpiC	kidney:	n/a
44	chr17:33905541-33905591	HL-60	blood:	n/a
45	chr17:33905541-33905591	NT2-D1	testis:	n/a
46	chr17:33905541-33905591	HepG2	liver:	n/a
47	chr17:33905541-33905591	HPAEpiC	pulmonary alveolar:	n/a
48	chr17:33905541-33905591	SAEC	small airway:	n/a
49	chr17:33905541-33905591	NHDF-neo	bronchial:	n/a
50	chr17:33905541-33905591	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:33905317..33905867-chr6:27860373..27861036,2	Hela-S3	cervix:
2	chr17:33905539..33906227-chr6:27114174..27114709,2	Hela-S3	cervix:
3	chr17:33905316..33906150-chr17:33913826..33914517,2	MCF-7	breast:
4	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
5	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
6	chr17:33893246..33896592-chr17:33904977..33907170,4	MCF-7	breast:
7	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
8	chr14:75745047..75745976-chr17:33905357..33906188,2	Hela-S3	cervix:
9	chr17:33904670..33906387-chr17:34135611..34138584,2	MCF-7	breast:
10	chr17:33905538..33906296-chr19:17952868..17953561,2	Hela-S3	cervix:
11	chr17:33905180..33906102-chr17:33913821..33914729,3	K562	blood:
12	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
13	chr17:33905349..33905998-chr17:33914162..33914718,2	HCT-116	colon:
14	chr17:33903959..33906487-chr17:34046885..34048555,2	K562	blood:
15	chr11:94226544..94227246-chr17:33904994..33905713,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PEX12	TF binding region
PEX12	CpG island
ENSG00000233224	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000267035	Chromatin interaction
ENSG00000105639	Chromatin interaction
ENSG00000239520	Chromatin interaction
ENSG00000267578	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491114	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10491115	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11870399	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11870475	0.87[AMR][1000 genomes]
rs12449919	0.84[ASN][1000 genomes]
rs12450039	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12452633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452961	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12603142	0.89[ASN][1000 genomes]
rs16971117	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16971122	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1964509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226424	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs226427	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs226433	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs226435	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs226436	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs226437	0.84[ASN][1000 genomes]
rs2301731	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2428463	0.84[ASN][1000 genomes]
rs2523115	0.84[ASN][1000 genomes]
rs28361509	0.87[AFR][1000 genomes]
rs28384428	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28384429	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28661650	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs3785759	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3785763	0.89[ASN][1000 genomes]
rs62079728	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7211363	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9303689	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9891317	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9904644	1.00[ASW][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9904957	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9906037	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9907911	1.00[YRI][hapmap]
rs9914730	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9916483	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33903800-33906400	Active TSS	GM12878-XiMat	blood
2	chr17:33904000-33906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:33904200-33906600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:33904200-33906600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:33904400-33906600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:33904600-33905600	Active TSS	Right Atrium	heart
7	chr17:33904600-33906200	Active TSS	Fetal Kidney	kidney
8	chr17:33904600-33906400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:33904600-33906600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr17:33904600-33906600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr17:33904600-33906600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:33904600-33906600	Active TSS	Psoas Muscle	Psoas
13	chr17:33904600-33907000	Active TSS	K562	blood
14	chr17:33904800-33906000	Active TSS	HMEC	breast
15	chr17:33904800-33906200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:33904800-33906200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:33904800-33906200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:33904800-33906200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:33904800-33906200	Active TSS	Esophagus	oesophagus
20	chr17:33904800-33906200	Active TSS	Fetal Intestine Large	intestine
21	chr17:33904800-33906200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr17:33904800-33906200	Active TSS	Pancreas	Pancrea
23	chr17:33904800-33906200	Active TSS	Placenta Amnion	Placenta Amnion
24	chr17:33904800-33906400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr17:33904800-33906400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr17:33904800-33906400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:33904800-33906400	Active TSS	Placenta	Placenta
28	chr17:33904800-33906400	Active TSS	Left Ventricle	heart
29	chr17:33904800-33906400	Active TSS	Ovary	ovary
30	chr17:33904800-33906400	Active TSS	Right Ventricle	heart
31	chr17:33904800-33906600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:33904800-33906600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr17:33904800-33906600	Active TSS	Colonic Mucosa	Colon
34	chr17:33904800-33906600	Active TSS	Fetal Muscle Trunk	muscle
35	chr17:33904800-33906600	Active TSS	NHDF-Ad	bronchial
36	chr17:33905000-33905800	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr17:33905000-33905800	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr17:33905000-33906000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:33905000-33906000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr17:33905000-33906000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:33905000-33906000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr17:33905000-33906000	Active TSS	Liver	Liver
43	chr17:33905000-33906000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr17:33905000-33906000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr17:33905000-33906000	Active TSS	HSMM	muscle
46	chr17:33905000-33906200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr17:33905000-33906200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:33905000-33906200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr17:33905000-33906200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:33905000-33906200	Active TSS	Aorta	Aorta

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