Variant report

Variant	rs13161770
Chromosome Location	chr5:43514365-43514366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

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	POLR2A	chr5:43514221-43515680	IMR90	lung:	n/a	n/a
3	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
5	TEAD4	chr5:43514103-43515610	K562	blood:	n/a	n/a
6	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr5:43514319-43515514	Hela-S3	cervix:	n/a	n/a
8	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr5:43514174-43515585	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr5:43514193-43514366	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:43514352-43514853	U87	brain:	n/a	n/a
12	NR2F2	chr5:43514336-43515823	K562	blood:	n/a	n/a
13	MAFK	chr5:43514170-43515585	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:43514282-43515690	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr5:43514293-43515806	Hela-S3	cervix:	n/a	n/a
16	CUX1	chr5:43513891-43515960	K562	blood:	n/a	chr5:43514467-43514481
17	E2F4	chr5:43514297-43515923	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:43513474-43515821	H1-hESC	embryonic stem cell:	n/a	n/a
19	GATA1	chr5:43513691-43515890	PBDE	blood:	n/a	n/a
20	TBP	chr5:43514193-43516109	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:43514350-43516080	MCF10A-Er-Src	breast:	n/a	n/a
22	ARID3A	chr5:43514295-43515932	K562	blood:	n/a	chr5:43514619-43514635
23	REST	chr5:43514188-43515549	H1-neurons	neurons:	n/a	chr5:43515319-43515332
24	RCOR1	chr5:43514202-43515742	Hela-S3	cervix:	n/a	n/a

No data

(count:24 , 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	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
8	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
9	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
10	chr5:43513911..43514922-chr5:122847136..122847909,3	Hela-S3	cervix:
11	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
12	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
13	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
14	chr16:1094010..1094683-chr5:43513911..43514771,2	Hela-S3	cervix:
15	chr5:43513305..43514907-chr5:43612874..43615752,2	K562	blood:
16	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
17	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
18	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
19	chr5:43505860..43508968-chr5:43512640..43515485,3	MCF-7	breast:
20	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
21	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
22	chr5:43513168..43514863-chr5:43601300..43603007,2	K562	blood:
23	chr17:72869397..72870139-chr5:43514291..43514986,2	Hela-S3	cervix:
24	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10461740	1.00[AMR][1000 genomes]
rs10461742	0.81[ASN][1000 genomes]
rs10462050	1.00[AMR][1000 genomes]
rs10941642	1.00[AMR][1000 genomes]
rs12653472	1.00[AMR][1000 genomes]
rs12656199	1.00[AMR][1000 genomes]
rs12656650	1.00[AMR][1000 genomes]
rs12657635	1.00[AMR][1000 genomes]
rs12657724	1.00[AMR][1000 genomes]
rs12658205	1.00[AMR][1000 genomes]
rs12659627	1.00[AMR][1000 genomes]
rs13155888	1.00[AMR][1000 genomes]
rs13158442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161668	1.00[AMR][1000 genomes]
rs13165869	1.00[AMR][1000 genomes]
rs13167838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13168053	1.00[AMR][1000 genomes]
rs13173517	1.00[AMR][1000 genomes]
rs13175037	0.81[ASN][1000 genomes]
rs13179680	1.00[AMR][1000 genomes]
rs13183407	1.00[AMR][1000 genomes]
rs13188884	1.00[AMR][1000 genomes]
rs13190614	1.00[AMR][1000 genomes]
rs34096155	1.00[AMR][1000 genomes]
rs34179982	1.00[AMR][1000 genomes]
rs34211578	1.00[AMR][1000 genomes]
rs34308364	0.81[ASN][1000 genomes]
rs34350522	1.00[AMR][1000 genomes]
rs34455365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34512505	1.00[AMR][1000 genomes]
rs34572440	0.81[ASN][1000 genomes]
rs34617389	1.00[AMR][1000 genomes]
rs34788563	1.00[AMR][1000 genomes]
rs34792822	1.00[AMR][1000 genomes]
rs34868623	1.00[AMR][1000 genomes]
rs34973456	1.00[AMR][1000 genomes]
rs34980504	1.00[AMR][1000 genomes]
rs34991197	1.00[AMR][1000 genomes]
rs35136550	1.00[AMR][1000 genomes]
rs35171369	1.00[AMR][1000 genomes]
rs35478855	1.00[AMR][1000 genomes]
rs35590922	1.00[AMR][1000 genomes]
rs35602154	1.00[AMR][1000 genomes]
rs35679811	0.81[ASN][1000 genomes]
rs35707409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35713376	1.00[AMR][1000 genomes]
rs35733458	1.00[AMR][1000 genomes]
rs35923573	1.00[AMR][1000 genomes]
rs35966682	1.00[AMR][1000 genomes]
rs36021958	0.81[ASN][1000 genomes]
rs36076336	1.00[AMR][1000 genomes]
rs36104847	1.00[AMR][1000 genomes]
rs4533897	1.00[AMR][1000 genomes]
rs71629170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71629171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71629172	1.00[AMR][1000 genomes]
rs71629174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71629175	1.00[AMR][1000 genomes]
rs71629177	1.00[AMR][1000 genomes]
rs71629178	1.00[AMR][1000 genomes]
rs71629180	1.00[AMR][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:120 , 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	chr5:43506000-43514400	Weak transcription	Colonic Mucosa	Colon
10	chr5:43506200-43514600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:43506400-43514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:43511400-43514600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:43513200-43514400	Flanking Active TSS	Hela-S3	cervix
14	chr5:43513200-43514600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43513400-43514400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:43513400-43514400	Enhancers	Fetal Heart	heart
17	chr5:43513400-43514400	Flanking Active TSS	Dnd41	blood
18	chr5:43513400-43514400	Flanking Active TSS	NHEK	skin
19	chr5:43513400-43514600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr5:43513400-43514600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:43513400-43514800	Enhancers	Small Intestine	intestine
22	chr5:43513400-43515200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:43513400-43515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:43513600-43514400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:43513600-43514400	Enhancers	Primary B cells from cord blood	blood
28	chr5:43513600-43514400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:43513600-43514400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:43513600-43514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:43513600-43514400	Enhancers	Fetal Brain Male	brain
32	chr5:43513600-43514600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:43513600-43514600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:43513600-43514600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:43513600-43514600	Flanking Active TSS	HUVEC	blood vessel
36	chr5:43513600-43514600	Flanking Active TSS	Osteobl	bone
37	chr5:43513600-43514800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:43513600-43515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:43513600-43515600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43513800-43514400	Flanking Active TSS	NH-A	brain
42	chr5:43513800-43514600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
47	chr5:43514000-43514400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:43514000-43514400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:43514000-43514400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:43514000-43514400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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