Variant report

Variant	rs36013953
Chromosome Location	chr5:43514586-43514587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr5:43514319-43515621	K562	blood:	n/a	n/a
2	GABPA	chr5:43514519-43515695	HL-60	blood:	n/a	n/a
3	FOS	chr5:43514585-43514783	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:43514221-43515680	IMR90	lung:	n/a	n/a
5	STAT3	chr5:43514564-43514782	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
8	TEAD4	chr5:43514103-43515610	K562	blood:	n/a	n/a
9	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr5:43514369-43515421	K562	blood:	n/a	n/a
11	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
12	TBL1XR1	chr5:43514532-43515890	K562	blood:	n/a	n/a
13	MAZ	chr5:43514319-43515514	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:43514577-43515550	Hela-S3	cervix:	n/a	n/a
15	RUNX3	chr5:43514546-43515630	GM12878	blood:	n/a	chr5:43515183-43515198
16	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr5:43514174-43515585	Hela-S3	cervix:	n/a	n/a
18	FOS	chr5:43514582-43514848	MCF10A-Er-Src	breast:	n/a	n/a
19	ATF2	chr5:43514540-43515425	GM12878	blood:	n/a	n/a
20	TAF1	chr5:43514521-43515537	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr5:43514485-43515709	A549	lung:	n/a	n/a
22	POLR2A	chr5:43514526-43515829	U87	brain:	n/a	n/a
23	POLR2A	chr5:43514505-43516062	SK-N-MC	brain:	n/a	n/a
24	MAX	chr5:43514471-43515758	A549	lung:	n/a	n/a
25	POLR2A	chr5:43514570-43515932	K562	blood:	n/a	n/a
26	CHD1	chr5:43514444-43515997	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr5:43514530-43515524	GM12878	blood:	n/a	chr5:43515318-43515332
28	NFIC	chr5:43514533-43515890	GM12878	blood:	n/a	n/a
29	TAL1	chr5:43514457-43515507	K562	blood:	n/a	n/a
30	POLR2A	chr5:43514352-43514853	U87	brain:	n/a	n/a
31	STAT3	chr5:43514573-43514926	MCF10A-Er-Src	breast:	n/a	n/a
32	ATF2	chr5:43514570-43515039	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:43514425-43515917	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr5:43514574-43515739	GM12878	blood:	n/a	n/a
35	NR2F2	chr5:43514336-43515823	K562	blood:	n/a	n/a
36	RFX5	chr5:43514558-43516085	Hela-S3	cervix:	n/a	n/a
37	PML	chr5:43514561-43515946	K562	blood:	n/a	n/a
38	ATF2	chr5:43514577-43514976	H1-hESC	embryonic stem cell:	n/a	n/a
39	NFATC1	chr5:43514518-43515228	GM12878	blood:	n/a	chr5:43514548-43514562
40	ATF2	chr5:43514518-43515676	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:43514548-43515673	GM12878	blood:	n/a	n/a
42	TEAD4	chr5:43514558-43515581	K562	blood:	n/a	n/a
43	MYC	chr5:43514561-43514804	MCF10A-Er-Src	breast:	n/a	n/a
44	MAFK	chr5:43514170-43515585	Hela-S3	cervix:	n/a	n/a
45	MAX	chr5:43514566-43515530	SK-N-SH	brain:	n/a	n/a
46	TCF12	chr5:43514557-43515757	A549	lung:	n/a	n/a
47	PML	chr5:43514481-43516085	GM12878	blood:	n/a	n/a
48	REST	chr5:43514575-43515846	H1-neurons	neurons:	n/a	chr5:43515319-43515332
49	EP300	chr5:43514540-43515563	GM12878	blood:	n/a	chr5:43515291-43515298 chr5:43514766-43514774 chr5:43515351-43515360
50	POLR2A	chr5:43514282-43515690	Hela-S3	cervix:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr5:43505117..43507212-chr5:43512468..43514736,2	MCF-7	breast:
4	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
5	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
6	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
7	chr3:122233679..122234223-chr5:43514539..43515399,2	NB4	blood:
8	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
9	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
10	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
11	chr5:43513911..43514922-chr5:122847136..122847909,3	Hela-S3	cervix:
12	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
13	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
14	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
15	chr16:1094010..1094683-chr5:43513911..43514771,2	Hela-S3	cervix:
16	chr5:43513305..43514907-chr5:43612874..43615752,2	K562	blood:
17	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
18	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
19	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
20	chr5:43505860..43508968-chr5:43512640..43515485,3	MCF-7	breast:
21	chr5:43514388..43515180-chr6:30584693..30585401,2	Hela-S3	cervix:
22	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
23	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
24	chr5:43513168..43514863-chr5:43601300..43603007,2	K562	blood:
25	chr17:72869397..72870139-chr5:43514291..43514986,2	Hela-S3	cervix:
26	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248240	TF binding region
ENSG00000248554	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000151292	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000114030	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10036954	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10038608	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10042992	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10045400	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10045455	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10058558	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061165	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10065863	0.82[ASN][1000 genomes]
rs10074682	0.85[EUR][1000 genomes]
rs10447144	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10462051	0.90[EUR][1000 genomes]
rs10473311	0.89[EUR][1000 genomes]
rs10941640	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332560	0.90[EUR][1000 genomes]
rs12651879	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12652547	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12659369	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12697452	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13185343	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13189004	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13360902	0.93[ASN][1000 genomes]
rs1389868	0.86[EUR][1000 genomes]
rs1389869	0.86[EUR][1000 genomes]
rs1428640	0.90[EUR][1000 genomes]
rs2013173	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2131999	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2132000	0.88[EUR][1000 genomes]
rs2172763	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34007811	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35710460	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35881272	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3776423	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3806870	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073848	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073850	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073851	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242099	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4308491	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4331909	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4367306	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415083	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4467713	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4513704	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4576155	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4610465	0.90[ASN][1000 genomes]
rs4866746	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4866752	0.83[ASN][1000 genomes]
rs4866833	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55641556	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56400900	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57547662	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57597020	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451692	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451693	0.85[EUR][1000 genomes]
rs6451695	0.89[EUR][1000 genomes]
rs6451696	0.89[EUR][1000 genomes]
rs6451698	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451703	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6451704	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451706	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6451712	0.91[EUR][1000 genomes]
rs6451718	0.84[ASN][1000 genomes]
rs67466542	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67581152	0.89[EUR][1000 genomes]
rs6858942	0.85[EUR][1000 genomes]
rs6861704	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6862102	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6865217	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6870018	0.88[EUR][1000 genomes]
rs6870783	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6883661	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73100614	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs750582	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs750584	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7701429	0.83[ASN][1000 genomes]
rs7707976	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7708072	0.84[ASN][1000 genomes]
rs7708369	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7708443	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7710125	0.84[ASN][1000 genomes]
rs7717636	0.90[EUR][1000 genomes]
rs7724571	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7731091	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734393	0.92[EUR][1000 genomes]
rs7735243	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7737793	0.90[ASN][1000 genomes]
rs9292883	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686159	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9687341	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9885467	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43514600	Weak transcription	Ovary	ovary
2	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
3	chr5:43492000-43514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43495000-43514600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43499400-43514600	Weak transcription	Left Ventricle	heart
6	chr5:43499800-43514600	Weak transcription	Aorta	Aorta
7	chr5:43502200-43514600	Weak transcription	Esophagus	oesophagus
8	chr5:43504200-43514600	Weak transcription	Lung	lung
9	chr5:43506200-43514600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:43506400-43514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:43511400-43514600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:43513200-43514600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:43513400-43514600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr5:43513400-43514600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:43513400-43514800	Enhancers	Small Intestine	intestine
16	chr5:43513400-43515200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:43513400-43515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:43513600-43514600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:43513600-43514600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:43513600-43514600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:43513600-43514600	Flanking Active TSS	HUVEC	blood vessel
24	chr5:43513600-43514600	Flanking Active TSS	Osteobl	bone
25	chr5:43513600-43514800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:43513600-43515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:43513600-43515600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:43513800-43514600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
34	chr5:43514000-43514600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:43514000-43514600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:43514000-43514600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:43514000-43514600	Flanking Active TSS	Fetal Stomach	stomach
38	chr5:43514000-43514800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:43514000-43515000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr5:43514000-43515600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:43514000-43515800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:43514000-43515800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:43514000-43515800	Active TSS	HMEC	breast
44	chr5:43514000-43515800	Active TSS	K562	blood
45	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:43514200-43514600	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:43514200-43514600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr5:43514200-43514600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr5:43514200-43514600	Enhancers	Liver	Liver

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