Variant report

Variant	rs4265781
Chromosome Location	chr15:43028749-43028750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr15:43028531-43029595	GM12892	blood:	n/a	chr15:43029333-43029342
2	MAZ	chr15:43028439-43029644	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:43028734-43029771	MCF-7	breast:	n/a	n/a
4	ZBTB7A	chr15:43028605-43028927	K562	blood:	n/a	n/a
5	E2F6	chr15:43028633-43028751	K562	blood:	n/a	n/a
6	POLR2A	chr15:43027826-43029760	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:43028591-43028863	K562	blood:	n/a	n/a
8	POLR2A	chr15:43028648-43029643	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr15:43028698-43029056	K562	blood:	n/a	n/a
10	SIN3AK20	chr15:43028479-43028845	K562	blood:	n/a	n/a
11	CHD2	chr15:43028738-43028847	HepG2	liver:	n/a	n/a
12	MAZ	chr15:43028138-43029884	IMR90	lung:	n/a	n/a
13	ZBTB7A	chr15:43028586-43029316	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr15:43028732-43030022	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:43028695-43029746	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:43028647-43029720	K562	blood:	n/a	n/a
17	POLR2A	chr15:43028511-43030037	K562	blood:	n/a	n/a
18	EGR1	chr15:43028550-43028854	K562	blood:	n/a	n/a
19	MAX	chr15:43028552-43028900	K562	blood:	n/a	n/a
20	SIN3A	chr15:43028346-43029681	H1-hESC	embryonic stem cell:	n/a	chr15:43029073-43029086
21	YY1	chr15:43028392-43029668	K562	blood:	n/a	chr15:43029069-43029083 chr15:43029075-43029089
22	POLR2A	chr15:43028551-43029785	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:43028582-43029719	Raji	blood:	n/a	n/a
24	POLR2A	chr15:43028524-43029818	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:43028069-43029712	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:43028600-43028905	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr15:43028373-43029710	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr15:43028085-43029764	K562	blood:	n/a	n/a
29	POLR2A	chr15:43028558-43029730	NB4	blood:	n/a	n/a
30	HCFC1	chr15:43028462-43030484	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:43027862-43029754	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr15:43027827-43029802	Hela-S3	cervix:	n/a	n/a
33	UBTF	chr15:43028471-43029696	K562	blood:	n/a	n/a
34	POLR2A	chr15:43028725-43029800	ProgFib	skin:	n/a	n/a
35	POLR2A	chr15:43028709-43029965	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr15:43028280-43029914	H1-hESC	embryonic stem cell:	n/a	n/a
37	CCNT2	chr15:43028482-43029698	K562	blood:	n/a	n/a
38	UBTF	chr15:43028408-43029723	K562	blood:	n/a	n/a
39	RUNX3	chr15:43028732-43028947	GM12878	blood:	n/a	n/a
40	MAZ	chr15:43028622-43029678	Hela-S3	cervix:	n/a	n/a
41	MAX	chr15:43028669-43028830	K562	blood:	n/a	n/a
42	POLR2A	chr15:43028489-43029714	GM18505	blood:	n/a	n/a
43	POLR2A	chr15:43028533-43029706	GM18951	blood:	n/a	n/a
44	SMARCB1	chr15:43028469-43029713	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr15:43028171-43030086	IMR90	lung:	n/a	n/a
46	MAZ	chr15:43028502-43029839	K562	blood:	n/a	n/a
47	ETS1	chr15:43028631-43028850	K562	blood:	n/a	n/a
48	HMGN3	chr15:43028437-43029702	K562	blood:	n/a	n/a
49	ZBTB7A	chr15:43028607-43029178	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr15:43028612-43029707	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43014319..43018768-chr15:43027782..43030873,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246283	TF binding region
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10400824	0.82[EUR][1000 genomes]
rs12102055	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12905592	0.80[ASN][1000 genomes]
rs12906497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907826	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12912064	0.89[EUR][1000 genomes]
rs12917018	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917189	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957020	0.83[EUR][1000 genomes]
rs16957091	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957104	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1915241	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1995939	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2136900	0.89[EUR][1000 genomes]
rs2136901	0.90[ASN][1000 genomes]
rs2280048	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305084	0.93[EUR][1000 genomes]
rs2305085	0.80[EUR][1000 genomes]
rs2412740	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412741	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28479391	0.85[ASN][1000 genomes]
rs28549876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562951	0.89[EUR][1000 genomes]
rs28798437	0.82[EUR][1000 genomes]
rs28811114	0.81[EUR][1000 genomes]
rs28823029	0.81[EUR][1000 genomes]
rs3199486	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34191150	0.93[ASN][1000 genomes]
rs35616173	0.92[ASN][1000 genomes]
rs35738819	0.81[ASN][1000 genomes]
rs3742987	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742988	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4923950	0.86[ASN][1000 genomes]
rs4924690	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924691	0.83[EUR][1000 genomes]
rs6493059	0.83[EUR][1000 genomes]
rs6493060	0.90[ASN][1000 genomes]
rs6493061	0.85[ASN][1000 genomes]
rs6493062	0.81[EUR][1000 genomes]
rs6493063	0.95[EUR][1000 genomes]
rs6493066	0.84[EUR][1000 genomes]
rs66681258	0.82[EUR][1000 genomes]
rs67391479	0.87[EUR][1000 genomes]
rs7163030	0.87[EUR][1000 genomes]
rs7166373	0.82[ASN][1000 genomes]
rs7166632	0.85[EUR][1000 genomes]
rs7166775	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167392	0.94[EUR][1000 genomes]
rs7169009	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169202	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7174041	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7175582	0.92[EUR][1000 genomes]
rs7182141	0.91[EUR][1000 genomes]
rs731984	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8026233	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027427	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030587	0.85[ASN][1000 genomes]
rs8034447	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8034664	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8043472	0.85[EUR][1000 genomes]
rs9269	0.92[EUR][1000 genomes]
rs9783713	0.92[EUR][1000 genomes]
rs9919994	0.89[EUR][1000 genomes]
rs9920163	0.81[EUR][1000 genomes]
rs9944248	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3410012	chr15:43027685-43030233	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3344912	chr15:43028085-43030633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr15:43027800-43028800	Enhancers	Stomach Mucosa	stomach
2	chr15:43028000-43028800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr15:43028000-43028800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr15:43028000-43028800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:43028000-43029800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:43028000-43030000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr15:43028000-43030000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:43028000-43030000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr15:43028200-43028800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr15:43028200-43029400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr15:43028200-43029400	Active TSS	Fetal Intestine Small	intestine
12	chr15:43028200-43029600	Active TSS	NHLF	lung
13	chr15:43028200-43029800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr15:43028200-43029800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:43028200-43029800	Active TSS	Left Ventricle	heart
16	chr15:43028200-43029800	Active TSS	Ovary	ovary
17	chr15:43028200-43029800	Active TSS	A549	lung
18	chr15:43028200-43030000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:43028200-43030000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:43028200-43030000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr15:43028200-43030200	Active TSS	Fetal Kidney	kidney
22	chr15:43028400-43028800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:43028400-43029400	Active TSS	Osteobl	bone
24	chr15:43028400-43029600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:43028400-43029600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:43028400-43029600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:43028400-43029600	Active TSS	Fetal Lung	lung
28	chr15:43028400-43029600	Active TSS	Small Intestine	intestine
29	chr15:43028400-43029600	Active TSS	HSMM	muscle
30	chr15:43028400-43029600	Active TSS	NH-A	brain
31	chr15:43028400-43029600	Active TSS	NHDF-Ad	bronchial
32	chr15:43028400-43029800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:43028400-43029800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:43028400-43029800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:43028400-43029800	Active TSS	Brain Anterior Caudate	brain
36	chr15:43028400-43029800	Active TSS	Fetal Brain Female	brain
37	chr15:43028400-43029800	Active TSS	Gastric	stomach
38	chr15:43028400-43029800	Active TSS	Lung	lung
39	chr15:43028400-43029800	Active TSS	HSMMtube	muscle
40	chr15:43028400-43030000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr15:43028400-43030000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr15:43028400-43030000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:43028400-43030000	Active TSS	Aorta	Aorta
44	chr15:43028400-43030000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:43028600-43028800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:43028600-43028800	Flanking Active TSS	Thymus	Thymus
47	chr15:43028600-43029000	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:43028600-43029400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:43028600-43029400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:43028600-43029400	Active TSS	Primary neutrophils fromperipheralblood	blood

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