Variant report

Variant	rs62055083
Chromosome Location	chr16:73097366-73097367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:73097243-73099093	MCF10A-Er-Src	breast:	n/a	n/a
2	SUZ12	chr16:73096034-73102137	NT2-D1	testis:	n/a	n/a
3	TBP	chr16:73096865-73097469	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr16:73096999-73097445	H1-hESC	embryonic stem cell:	n/a	chr16:73097055-73097071
5	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr16:73096250-73099162	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr16:73096716-73098414	H1-hESC	embryonic stem cell:	n/a	chr16:73098299-73098309 chr16:73097913-73097920 chr16:73097910-73097927
8	USF1	chr16:73097110-73097423	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr16:73096743-73097580	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
10	MAX	chr16:73096844-73097514	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
11	SUZ12	chr16:73096739-73097659	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr16:73096806-73097377	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
13	CTBP2	chr16:73096543-73098376	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF2	chr16:73097085-73097458	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr16:73096824-73097464	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:73097350-73097506	MCF10A-Er-Src	breast:	n/a	n/a
17	REST	chr16:73079663-73097378	H1-neurons	neurons:	n/a	chr16:73084142-73084155 chr16:73087431-73087444 chr16:73082371-73082384 chr16:73091909-73091929 chr16:73082047-73082060 chr16:73097037-73097057 chr16:73088004-73088022 chr16:73091374-73091387 chr16:73091745-73091758 chr16:73096963-73096973 chr16:73091633-73091646 chr16:73091913-73091926 chr16:73097037-73097057 chr16:73081695-73081715 chr16:73091544-73091557 chr16:73096925-73096938 chr16:73097330-73097339
18	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:73097364-73097414	Hepatocyte	liver:	n/a
2	chr16:73097364-73097414	AG04450	lung:	fetal
3	chr16:73097364-73097414	SK-N-SH_RA	brain:	n/a
4	chr16:73097364-73097414	HRPEpiC	eye:	n/a
5	chr16:73097364-73097414	GM12878	blood:	n/a
6	chr16:73097364-73097414	HCF	heart:	n/a
7	chr16:73097364-73097414	NHDF-neo	bronchial:	n/a
8	chr16:73097364-73097414	GM12891	blood:	n/a
9	chr16:73097364-73097414	HPAEpiC	pulmonary alveolar:	n/a
10	chr16:73097364-73097414	MCF-7	breast:	n/a
11	chr16:73097364-73097414	PFSK-1	brain:	n/a
12	chr16:73097364-73097414	U87	brain:	n/a
13	chr16:73097364-73097414	PANC-1	pancreas:	n/a
14	chr16:73097364-73097414	NT2-D1	testis:	n/a
15	chr16:73097364-73097414	BE2_C	brain:	n/a
16	chr16:73097364-73097414	HepG2	liver:	n/a
17	chr16:73097364-73097414	HNPCEpiC	eye:	n/a
18	chr16:73097364-73097414	AG09319	gingival:	n/a
19	chr16:73097364-73097414	ovcar-3	ovarian:	n/a
20	chr16:73097364-73097414	HCPEpiC	choroid plexus:	n/a
21	chr16:73097364-73097414	Jurkat	blood:	n/a
22	chr16:73097364-73097414	CMK	blood:	n/a
23	chr16:73097364-73097414	ProgFib	skin:	n/a
24	chr16:73097364-73097414	H1-hESC	embryonic stem cell:	embryo
25	chr16:73097364-73097414	HEK293	kidney:	embryo
26	chr16:73097364-73097414	NHBE	bronchial:	n/a
27	chr16:73097364-73097414	ECC-1	luminal epithelium:	n/a
28	chr16:73097364-73097414	IMR90	lung:	fetal
29	chr16:73097364-73097414	NH-A	brain:	n/a
30	chr16:73097364-73097414	SAEC	small airway:	n/a
31	chr16:73097364-73097414	Hela-S3	cervix:	n/a
32	chr16:73097364-73097414	RPTEC	kidney:	n/a
33	chr16:73097364-73097414	AG10803	skin:	n/a
34	chr16:73097364-73097414	K562	blood:	n/a
35	chr16:73097364-73097414	AoSMC	blood vessel:	n/a
36	chr16:73097364-73097414	GM12892	blood:	n/a
37	chr16:73097364-73097414	AG04449	skin:	fetal
38	chr16:73097364-73097414	HRCEpiC	kidney:	n/a
39	chr16:73097364-73097414	AG09309	skin:	n/a
40	chr16:73097364-73097414	T-47D	breast:	n/a
41	chr16:73097364-73097414	HCT-116	colon:	n/a
42	chr16:73097364-73097414	SK-N-SH	brain:	n/a
43	chr16:73097364-73097414	NB4	blood:	n/a
44	chr16:73097364-73097414	SK-N-MC	brain:	n/a
45	chr16:73097364-73097414	HMEC	breast:	n/a
46	chr16:73097364-73097414	HUVEC	blood vessel:	n/a
47	chr16:73097364-73097414	MCF10A-Er-Src	breast:	n/a
48	chr16:73097364-73097414	HCM	heart:	n/a
49	chr16:73097364-73097414	PrEC	prostate:	n/a
50	chr16:73097364-73097414	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72808782..72811039-chr16:73094813..73097689,2	MCF-7	breast:
2	chr16:72949102..72951927-chr16:73096554..73098630,2	MCF-7	breast:
3	chr16:72878570..72880938-chr16:73094933..73097735,2	MCF-7	breast:

Variant related genes	Relation type
ZFHX3	TF binding region
ZFHX3	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs62055069	0.85[AMR][1000 genomes]
rs62055070	0.85[AMR][1000 genomes]
rs62055071	0.85[AMR][1000 genomes]
rs62055072	0.85[AMR][1000 genomes]
rs62055073	0.85[AMR][1000 genomes]
rs62055076	0.85[AMR][1000 genomes]
rs62055077	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055081	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62055088	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052905	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73093000-73097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:73093200-73098600	Weak transcription	Lung	lung
4	chr16:73093200-73100600	Weak transcription	Gastric	stomach
5	chr16:73093400-73098000	Weak transcription	Pancreas	Pancrea
6	chr16:73094400-73098000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:73095200-73097400	Weak transcription	Hela-S3	cervix
10	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
11	chr16:73095400-73097400	Weak transcription	Osteobl	bone
12	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:73095800-73098000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr16:73096000-73097600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:73096000-73098000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:73096200-73098200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:73096400-73097400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:73096400-73097600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
21	chr16:73096400-73098600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr16:73096600-73097400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr16:73096600-73097400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:73096600-73097400	Active TSS	Right Atrium	heart
29	chr16:73096600-73097400	Active TSS	HSMM	muscle
30	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr16:73096600-73097600	Weak transcription	A549	lung
32	chr16:73096600-73097800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr16:73096600-73098000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr16:73096600-73098000	Enhancers	HUVEC	blood vessel
35	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:73096800-73097400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:73096800-73097400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:73096800-73097400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
40	chr16:73096800-73097400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr16:73096800-73097400	Flanking Active TSS	Placenta	Placenta
42	chr16:73096800-73097800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:73096800-73098000	Enhancers	HMEC	breast
44	chr16:73096800-73098200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr16:73096800-73099000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:73096800-73099200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr16:73096800-73100200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr16:73097000-73097400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:73097000-73097400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr16:73097000-73097400	Bivalent Enhancer	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links