Variant report

Variant	rs4503795
Chromosome Location	chr16:71496399-71496400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:305)
CpG islands
(count:122)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr16:71495844-71496439	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:71495116-71496480	U87	brain:	n/a	n/a
3	MYBL2	chr16:71495707-71496477	HepG2	liver:	n/a	n/a
4	PAX5	chr16:71495779-71496477	GM12878	blood:	n/a	n/a
5	MYC	chr16:71495529-71496434	K562	blood:	n/a	chr16:71496345-71496354
6	CTCF	chr16:71496340-71496490	NHEK	skin:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
7	SIN3AK20	chr16:71495636-71496559	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:71495376-71496488	GM12878	blood:	n/a	n/a
9	TAF1	chr16:71495843-71496411	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr16:71496300-71496450	GM12871	blood:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
11	POLR2A	chr16:71495830-71496430	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr16:71495787-71496445	GM10847	blood:	n/a	n/a
13	CTCF	chr16:71496260-71496410	HCPEpiC	choroid plexus:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
14	POLR2A	chr16:71495664-71496413	HCT-116	colon:	n/a	n/a
15	CTCF	chr16:71496260-71496410	GM12865	blood:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
16	CTCF	chr16:71496280-71496430	HBMEC	blood vessel:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
17	GABPA	chr16:71495203-71496757	MCF-7	breast:	n/a	n/a
18	RELA	chr16:71495941-71496458	GM19099	blood:	n/a	n/a
19	SP2	chr16:71495574-71496589	HepG2	liver:	n/a	n/a
20	REST	chr16:71495318-71496886	H1-neurons	neurons:	n/a	chr16:71496026-71496036
21	MAX	chr16:71495602-71496441	H1-hESC	embryonic stem cell:	n/a	chr16:71496345-71496354
22	ZEB1	chr16:71495858-71496427	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:71495802-71496404	PANC-1	pancreas:	n/a	n/a
24	MYC	chr16:71495727-71496408	MCF-7	breast:	n/a	chr16:71496345-71496354
25	ZNF143	chr16:71495736-71496426	H1-hESC	embryonic stem cell:	n/a	chr16:71495974-71495992
26	SP2	chr16:71495903-71496420	K562	blood:	n/a	n/a
27	POLR2A	chr16:71495543-71496454	GM15510	blood:	n/a	n/a
28	HCFC1	chr16:71495326-71496822	Hela-S3	cervix:	n/a	n/a
29	REST	chr16:71495784-71496403	U87	brain:	n/a	chr16:71496026-71496036
30	BHLHE40	chr16:71495638-71496432	K562	blood:	n/a	n/a
31	TAF1	chr16:71495858-71496407	GM12891	blood:	n/a	n/a
32	POLR2A	chr16:71495416-71496487	GM12892	blood:	n/a	n/a
33	YY1	chr16:71495791-71496416	A549	lung:	n/a	chr16:71495962-71495971 chr16:71495954-71495968
34	POLR2A	chr16:71495527-71496480	GM18505	blood:	n/a	n/a
35	RUNX3	chr16:71495673-71496488	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr16:71495748-71496432	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr16:71495431-71496627	HCT-116	colon:	n/a	chr16:71496345-71496354
38	ELF1	chr16:71495659-71496470	MCF-7	breast:	n/a	n/a
39	CTCF	chr16:71496300-71496450	AG10803	skin:	n/a	chr16:71496372-71496385 chr16:71496370-71496386
40	POLR2A	chr16:71495470-71496433	K562	blood:	n/a	n/a
41	TAF1	chr16:71495575-71496442	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:71495394-71496516	HL-60	blood:	n/a	n/a
43	MBD4	chr16:71495569-71496446	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:71495445-71496473	GM12892	blood:	n/a	n/a
45	MXI1	chr16:71495229-71497450	SK-N-SH	brain:	n/a	chr16:71496344-71496353
46	CREB1	chr16:71495716-71496541	GM12878	blood:	n/a	n/a
47	E2F6	chr16:71495616-71496455	A549	lung:	n/a	n/a
48	SP2	chr16:71495651-71496513	HepG2	liver:	n/a	n/a
49	YY1	chr16:71495682-71496447	GM12878	blood:	n/a	chr16:71495962-71495971 chr16:71495954-71495968
50	EP300	chr16:71496035-71496435	GM12878	blood:	n/a	chr16:71496082-71496098

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71496383-71496433	GM12891	blood:	n/a
2	chr16:71496385-71496435	HRE	kidney:	n/a
3	chr16:71496383-71496433	PFSK-1	brain:	n/a
4	chr16:71496385-71496435	GM12878	blood:	n/a
5	chr16:71496385-71496435	LNCaP	prostate:	n/a
6	chr16:71496385-71496435	CMK	blood:	n/a
7	chr16:71496385-71496435	HCF	heart:	n/a
8	chr16:71496385-71496435	HCPEpiC	choroid plexus:	n/a
9	chr16:71496385-71496435	HCM	heart:	n/a
10	chr16:71496385-71496435	HEK293	kidney:	embryo
11	chr16:71496385-71496435	AG10803	skin:	n/a
12	chr16:71496383-71496433	HRPEpiC	eye:	n/a
13	chr16:71496385-71496435	GM19239	blood:	n/a
14	chr16:71496385-71496435	AoSMC	blood vessel:	n/a
15	chr16:71496385-71496435	T-47D	breast:	n/a
16	chr16:71496383-71496433	Jurkat	blood:	n/a
17	chr16:71496385-71496435	Jurkat	blood:	n/a
18	chr16:71496385-71496435	H1-hESC	embryonic stem cell:	embryo
19	chr16:71496383-71496433	NHBE	bronchial:	n/a
20	chr16:71496385-71496435	AG09309	skin:	n/a
21	chr16:71496383-71496433	IMR90	lung:	fetal
22	chr16:71496383-71496433	HL-60	blood:	n/a
23	chr16:71496383-71496433	AG09319	gingival:	n/a
24	chr16:71496385-71496435	AG04450	lung:	fetal
25	chr16:71496383-71496433	GM19239	blood:	n/a
26	chr16:71496385-71496435	HCT-116	colon:	n/a
27	chr16:71496385-71496435	HEEpiC	esophagus:	n/a
28	chr16:71496383-71496433	NT2-D1	testis:	n/a
29	chr16:71496383-71496433	AG09309	skin:	n/a
30	chr16:71496383-71496433	HEK293	kidney:	embryo
31	chr16:71496385-71496435	SK-N-SH_RA	brain:	n/a
32	chr16:71496383-71496433	HRE	kidney:	n/a
33	chr16:71496385-71496435	PFSK-1	brain:	n/a
34	chr16:71496383-71496433	HMEC	breast:	n/a
35	chr16:71496385-71496435	HIPEpiC	eye:	n/a
36	chr16:71496385-71496435	HRPEpiC	eye:	n/a
37	chr16:71496385-71496435	HepG2	liver:	n/a
38	chr16:71496383-71496433	LNCaP	prostate:	n/a
39	chr16:71496383-71496433	ECC-1	luminal epithelium:	n/a
40	chr16:71496383-71496433	BE2_C	brain:	n/a
41	chr16:71496383-71496433	Caco-2	colon:	n/a
42	chr16:71496385-71496435	NH-A	brain:	n/a
43	chr16:71496383-71496433	AG04450	lung:	fetal
44	chr16:71496383-71496433	HUVEC	blood vessel:	n/a
45	chr16:71496385-71496435	NHBE	bronchial:	n/a
46	chr16:71496383-71496433	HNPCEpiC	eye:	n/a
47	chr16:71496385-71496435	ECC-1	luminal epithelium:	n/a
48	chr16:71496385-71496435	HPAEpiC	pulmonary alveolar:	n/a
49	chr16:71496385-71496435	U87	brain:	n/a
50	chr16:71496383-71496433	BJ	skin:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
2	chr16:71494034..71497645-chr16:71516569..71520102,12	K562	blood:
3	chr16:71463484..71466764-chr16:71493078..71496827,4	MCF-7	breast:
4	chr16:71495701..71496536-chr9:95055685..95056447,2	HCT-116	colon:
5	chr11:120106275..120108882-chr16:71494675..71496479,2	MCF-7	breast:
6	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
7	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
8	chr16:29973280..29973871-chr16:71495666..71496435,2	Hela-S3	cervix:
9	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
10	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
11	chr16:71477364..71480165-chr16:71494025..71496473,2	K562	blood:
12	chr16:71495690..71496577-chr16:71518159..71519385,6	MCF-7	breast:
13	chr16:71495757..71496586-chr19:12901757..12902361,2	Hela-S3	cervix:
14	chr16:71495699..71496606-chr16:71517751..71518756,7	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF23	TF binding region
ZNF23	CpG island
ENSG00000261611	Chromatin interaction
ENSG00000149932	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000262008	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000260734	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10500558	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11640165	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11641492	0.94[ASN][1000 genomes]
rs11643216	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11644434	0.80[EUR][1000 genomes]
rs11645711	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11647749	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12446461	0.86[ASN][1000 genomes]
rs13331346	0.92[ASN][1000 genomes]
rs1609868	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1609869	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16973266	0.84[AMR][1000 genomes]
rs2004672	0.92[ASN][1000 genomes]
rs2070832	0.91[ASN][1000 genomes]
rs2288486	0.94[ASN][1000 genomes]
rs2288487	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288488	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303788	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28372238	0.92[ASN][1000 genomes]
rs310334	0.90[ASN][1000 genomes]
rs35373081	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35916432	0.87[ASN][1000 genomes]
rs36063092	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3813743	0.93[ASN][1000 genomes]
rs4149498	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620964	0.82[ASN][1000 genomes]
rs58134724	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58452291	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58719913	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7184543	0.93[ASN][1000 genomes]
rs7186241	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7187165	0.93[ASN][1000 genomes]
rs7187354	0.92[ASN][1000 genomes]
rs7188342	0.93[ASN][1000 genomes]
rs7192986	0.81[ASN][1000 genomes]
rs7199026	0.93[ASN][1000 genomes]
rs7199373	0.92[ASN][1000 genomes]
rs7200335	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7200431	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7202662	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7202953	0.91[ASN][1000 genomes]
rs730470	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs732318	0.87[ASN][1000 genomes]
rs74026831	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74027246	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8044068	0.92[ASN][1000 genomes]
rs8044561	0.93[ASN][1000 genomes]
rs8051212	0.98[ASN][1000 genomes]
rs8053662	0.93[ASN][1000 genomes]
rs8058294	0.92[ASN][1000 genomes]
rs8058776	0.86[ASN][1000 genomes]
rs8061078	0.81[ASN][1000 genomes]
rs9302623	0.97[ASN][1000 genomes]
rs9926110	0.91[ASN][1000 genomes]
rs9928243	0.93[ASN][1000 genomes]
rs9933680	0.93[ASN][1000 genomes]
rs9935426	0.93[ASN][1000 genomes]
rs9936249	0.93[ASN][1000 genomes]
rs9940771	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr16:71493400-71496600	Active TSS	GM12878-XiMat	blood
2	chr16:71494200-71496600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:71494200-71496800	Active TSS	NHLF	lung
4	chr16:71494200-71497000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr16:71494200-71497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:71494600-71496800	Active TSS	A549	lung
7	chr16:71494800-71496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr16:71494800-71496600	Active TSS	K562	blood
9	chr16:71494800-71496800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr16:71494800-71496800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:71494800-71496800	Active TSS	Psoas Muscle	Psoas
12	chr16:71494800-71496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr16:71494800-71497000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:71494800-71497000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr16:71495000-71496400	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr16:71495000-71496800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:71495000-71496800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:71495000-71497000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:71495200-71496400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr16:71495200-71496400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:71495200-71496400	Active TSS	Thymus	Thymus
22	chr16:71495200-71496600	Active TSS	Fetal Kidney	kidney
23	chr16:71495200-71496600	Active TSS	Fetal Stomach	stomach
24	chr16:71495200-71496600	Active TSS	HSMM	muscle
25	chr16:71495200-71496600	Active TSS	NHDF-Ad	bronchial
26	chr16:71495200-71496800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr16:71495200-71496800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:71495200-71496800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:71495200-71496800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:71495200-71496800	Active TSS	HSMMtube	muscle
31	chr16:71495200-71496800	Flanking Active TSS	HUVEC	blood vessel
32	chr16:71495200-71497000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr16:71495200-71497000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:71495200-71497200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr16:71495400-71496400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:71495400-71496400	Active TSS	Fetal Lung	lung
37	chr16:71495400-71496400	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr16:71495400-71496400	Bivalent/Poised TSS	HepG2	liver
39	chr16:71495400-71496600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:71495400-71496600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:71495400-71496600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:71495400-71496600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:71495400-71496600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr16:71495400-71496600	Active TSS	Colonic Mucosa	Colon
45	chr16:71495400-71496600	Active TSS	Fetal Intestine Large	intestine
46	chr16:71495400-71496600	Active TSS	Fetal Intestine Small	intestine
47	chr16:71495400-71496600	Active TSS	Fetal Muscle Trunk	muscle
48	chr16:71495400-71496600	Active TSS	Fetal Thymus	thymus
49	chr16:71495400-71496600	Active TSS	Lung	lung
50	chr16:71495400-71496600	Active TSS	Placenta Amnion	Placenta Amnion

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