Variant report

Variant	rs17015027
Chromosome Location	chr4:90034686-90034687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:90034463-90035065	HepG2	liver:	n/a	n/a
2	HNF4G	chr4:90034444-90034997	HepG2	liver:	n/a	n/a
3	HDAC2	chr4:90034503-90035004	HepG2	liver:	n/a	n/a
4	CEBPD	chr4:90034645-90034891	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:90032770-90035534	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:90034622-90034935	IMR90	lung:	n/a	n/a
7	HNF4A	chr4:90034560-90035027	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:90032368-90036875	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:90034580-90035305	HepG2	liver:	n/a	n/a
10	FOXA1	chr4:90034541-90035025	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:90034674-90034921	A549	lung:	n/a	n/a
12	MBD4	chr4:90034574-90035037	HepG2	liver:	n/a	n/a
13	NFIC	chr4:90034563-90034930	HepG2	liver:	n/a	n/a
14	POLR2A	chr4:90032629-90036890	K562	blood:	n/a	n/a
15	MYBL2	chr4:90034471-90035041	HepG2	liver:	n/a	n/a
16	HNF4A	chr4:90034598-90034967	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:90034569-90035014	HepG2	liver:	n/a	n/a
18	JUND	chr4:90034570-90034947	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:90034580-90035002	HepG2	liver:	n/a	n/a
20	FOXA2	chr4:90034572-90034955	HepG2	liver:	n/a	n/a
21	SMC3	chr4:90034617-90035525	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:90034570-90034956	HepG2	liver:	n/a	n/a
23	MXI1	chr4:90034666-90035571	HepG2	liver:	n/a	n/a
24	SP1	chr4:90034477-90035064	HepG2	liver:	n/a	n/a
25	EP300	chr4:90034594-90035522	HepG2	liver:	n/a	n/a
26	CEBPB	chr4:90034572-90035502	HepG2	liver:	n/a	n/a
27	RXRA	chr4:90034548-90034955	HepG2	liver:	n/a	n/a
28	FOXA1	chr4:90034542-90035067	HepG2	liver:	n/a	n/a
29	CEBPB	chr4:90034523-90035012	A549	lung:	n/a	n/a
30	MYBL2	chr4:90034482-90035658	HepG2	liver:	n/a	n/a
31	FOXA1	chr4:90034503-90035026	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:90034593-90034905	K562	blood:	n/a	n/a
33	POLR2A	chr4:90031723-90036966	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:90034644-90034935	Hela-S3	cervix:	n/a	n/a
35	HNF4A	chr4:90034581-90035020	HepG2	liver:	n/a	n/a
36	HDAC2	chr4:90034506-90035000	HepG2	liver:	n/a	n/a
37	NFIC	chr4:90034534-90035073	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:90032059-90034809	GM12878	blood:	n/a	n/a
39	CEBPB	chr4:90034613-90034877	HepG2	liver:	n/a	n/a
40	TEAD4	chr4:90034466-90035085	HepG2	liver:	n/a	n/a
41	HNF4G	chr4:90034526-90034966	HepG2	liver:	n/a	n/a
42	NR2F2	chr4:90034529-90035142	HepG2	liver:	n/a	n/a
43	SETDB1	chr4:90034272-90034884	U2OS	brain:	n/a	n/a

No data

Variant related genes	Relation type
FAM13A	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10033484	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs11097208	0.84[AMR][1000 genomes]
rs11737182	0.81[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs12640018	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13138280	0.86[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1398940	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1398944	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458557	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs16996143	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs17015052	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1708668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1708669	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1708670	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1708681	0.87[ASN][1000 genomes]
rs1795722	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1795729	0.84[ASN][1000 genomes]
rs1795734	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1795738	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1849597	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1903007	0.95[JPT][hapmap]
rs1921679	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1921684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes]
rs1961979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs2018779	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2085601	0.95[JPT][hapmap]
rs2090031	0.93[ASN][1000 genomes]
rs2178583	0.95[JPT][hapmap]
rs2178584	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2178585	0.95[JPT][hapmap]
rs2464514	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609275	0.95[JPT][hapmap]
rs2670623	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2704571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2704573	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2704577	0.95[JPT][hapmap]
rs28600923	0.88[ASN][1000 genomes]
rs28628620	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2869971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs2869972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs28712360	0.84[AMR][1000 genomes]
rs2904261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes]
rs34845187	0.83[ASN][1000 genomes]
rs35624987	0.83[ASN][1000 genomes]
rs4285052	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4450885	0.84[AMR][1000 genomes]
rs4507326	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4642211	0.86[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs59924504	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60618725	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62306363	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62306364	0.96[ASN][1000 genomes]
rs62306390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62306391	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62306397	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6821678	0.90[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6844655	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6852373	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6853480	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72877642	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656238	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes]
rs7658455	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7659904	0.84[AMR][1000 genomes]
rs7660314	0.84[AMR][1000 genomes]
rs7680864	0.84[AMR][1000 genomes]
rs7686954	0.81[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs7692291	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7697075	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs7697900	0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs9307054	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs9307055	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs9307061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs9991237	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90033400-90048200	Weak transcription	Ovary	ovary
2	chr4:90033400-90049200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:90033600-90036400	Weak transcription	HUVEC	blood vessel
4	chr4:90033600-90038400	Weak transcription	Psoas Muscle	Psoas
5	chr4:90033600-90039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:90033600-90039000	Weak transcription	Lung	lung
7	chr4:90033600-90040800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:90033600-90043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:90033600-90045600	Weak transcription	Esophagus	oesophagus
10	chr4:90033600-90045600	Weak transcription	Pancreas	Pancrea
11	chr4:90033600-90049200	Weak transcription	Gastric	stomach
12	chr4:90033600-90052200	Weak transcription	Aorta	Aorta
13	chr4:90033800-90034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:90033800-90034800	Weak transcription	Fetal Stomach	stomach
15	chr4:90033800-90035000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:90033800-90036200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:90033800-90037600	Weak transcription	Fetal Thymus	thymus
18	chr4:90033800-90037600	Weak transcription	HSMM	muscle
19	chr4:90033800-90042400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:90034000-90034800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:90034000-90035000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:90034000-90035200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:90034000-90035600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:90034000-90036400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:90034000-90037000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:90034000-90037000	Weak transcription	Fetal Lung	lung
27	chr4:90034000-90038400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:90034000-90038800	Weak transcription	Fetal Kidney	kidney
29	chr4:90034000-90039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:90034000-90040400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:90034000-90040400	Weak transcription	NH-A	brain
32	chr4:90034000-90040800	Weak transcription	Osteobl	bone
33	chr4:90034000-90041600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:90034000-90042400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:90034000-90044000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:90034200-90034800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:90034200-90034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:90034200-90035200	Enhancers	Fetal Intestine Small	intestine
39	chr4:90034200-90035200	Strong transcription	K562	blood
40	chr4:90034200-90035800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:90034200-90038400	Weak transcription	Fetal Brain Male	brain
42	chr4:90034200-90040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:90034200-90040800	Weak transcription	NHDF-Ad	bronchial
44	chr4:90034200-90041000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:90034200-90044000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:90034400-90035000	Enhancers	Placenta	Placenta
47	chr4:90034400-90035000	Enhancers	HepG2	liver
48	chr4:90034400-90035400	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr4:90034400-90035600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:90034400-90036600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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