Variant report

Variant	rs61753635
Chromosome Location	chr16:71660404-71660405
allele	A/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	TBP	chr16:71659894-71660439	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr16:71659821-71661186	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr16:71659838-71660728	HepG2	liver:	n/a	chr16:71660046-71660055 chr16:71660606-71660617 chr16:71660041-71660055 chr16:71659915-71659926 chr16:71659942-71659953
4	TAF1	chr16:71659853-71660505	ECC-1	luminal epithelium:	n/a	n/a
5	HDAC2	chr16:71659696-71660526	HepG2	liver:	n/a	chr16:71660020-71660029
6	POLR2A	chr16:71659809-71660545	HCT-116	colon:	n/a	n/a
7	HMGN3	chr16:71660191-71660408	K562	blood:	n/a	n/a
8	POLR2A	chr16:71659853-71660503	MCF-7	breast:	n/a	n/a
9	EGR1	chr16:71659588-71660475	MCF-7	breast:	n/a	chr16:71660047-71660060 chr16:71659919-71659932 chr16:71660021-71660030 chr16:71660045-71660055
10	TAF1	chr16:71659835-71660581	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr16:71659783-71660668	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr16:71659746-71661199	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr16:71659997-71661041	MCF10A-Er-Src	breast:	n/a	n/a
14	ZEB1	chr16:71659760-71660676	GM12878	blood:	n/a	chr16:71660029-71660041 chr16:71660032-71660039 chr16:71660029-71660040 chr16:71660000-71660007
15	MAX	chr16:71659802-71660587	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr16:71659912-71660842	H1-hESC	embryonic stem cell:	n/a	n/a
17	EGR1	chr16:71659435-71661226	HCT-116	colon:	n/a	chr16:71660047-71660060 chr16:71659919-71659932 chr16:71660021-71660030 chr16:71660045-71660055
18	ELF1	chr16:71659850-71660599	MCF-7	breast:	n/a	n/a
19	ZEB1	chr16:71659700-71660881	HepG2	liver:	n/a	chr16:71660029-71660041 chr16:71660032-71660039 chr16:71660029-71660040 chr16:71660000-71660007
20	POLR2A	chr16:71659886-71660534	ECC-1	luminal epithelium:	n/a	n/a
21	E2F4	chr16:71660329-71660511	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3AK20	chr16:71659663-71660753	MCF-7	breast:	n/a	n/a
23	MAX	chr16:71659817-71660690	ECC-1	luminal epithelium:	n/a	n/a
24	GABPA	chr16:71659862-71660598	MCF-7	breast:	n/a	chr16:71660020-71660034 chr16:71660020-71660029 chr16:71660017-71660031 chr16:71660046-71660055 chr16:71660020-71660031 chr16:71660022-71660031
25	MAX	chr16:71659786-71660653	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFIC	chr16:71659765-71660538	ECC-1	luminal epithelium:	n/a	n/a
27	ZBTB7A	chr16:71659723-71660784	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr16:71659808-71660903	H1-hESC	embryonic stem cell:	n/a	chr16:71659983-71659997 chr16:71660021-71660030 chr16:71660046-71660055
29	POLR2A	chr16:71659962-71660895	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT3	chr16:71660342-71660461	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F6	chr16:71659717-71661049	H1-hESC	embryonic stem cell:	n/a	chr16:71659983-71659997 chr16:71660021-71660030 chr16:71660046-71660055
32	MAX	chr16:71659575-71660934	HepG2	liver:	n/a	n/a
33	MAX	chr16:71659661-71661191	MCF-7	breast:	n/a	n/a
34	POLR2A	chr16:71659826-71660433	MCF-7	breast:	n/a	n/a
35	CHD1	chr16:71660207-71660850	H1-hESC	embryonic stem cell:	n/a	n/a
36	NR2F2	chr16:71659609-71660748	MCF-7	breast:	n/a	n/a
37	POLR2A	chr16:71659837-71660496	HCT-116	colon:	n/a	n/a
38	POLR2A	chr16:71659621-71661252	H1-hESC	embryonic stem cell:	n/a	n/a
39	PML	chr16:71659864-71660438	MCF-7	breast:	n/a	n/a
40	E2F6	chr16:71659989-71660659	A549	lung:	n/a	chr16:71660021-71660030 chr16:71660046-71660055
41	ZEB1	chr16:71659550-71661221	HepG2	liver:	n/a	chr16:71660029-71660041 chr16:71660032-71660039 chr16:71661113-71661121 chr16:71660029-71660040 chr16:71660000-71660007
42	ZBTB7A	chr16:71659732-71661109	ECC-1	luminal epithelium:	n/a	n/a
43	HA-E2F1	chr16:71659699-71660774	MCF-7	breast:	n/a	chr16:71659983-71659997 chr16:71660021-71660030 chr16:71660046-71660055

No.	Distal block	Cell Line	Cell type
1	chr16:71659983..71661516-chr16:71697596..71700523,2	MCF-7	breast:
2	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
3	chr16:71515385..71518984-chr16:71658944..71661712,3	MCF-7	breast:
4	chr10:75757141..75757912-chr16:71659926..71660540,2	HCT-116	colon:
5	chr16:71597451..71600395-chr16:71660172..71663639,3	MCF-7	breast:
6	chr16:71598139..71600865-chr16:71657563..71661455,3	MCF-7	breast:

Variant related genes	Relation type
MARVELD3	TF binding region
ENSG00000157429	Chromatin interaction
ENSG00000035403	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000260886	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000199301	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10500560	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1056303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11640830	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11648483	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11670	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445161	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12446005	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12448022	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12919271	0.81[EUR][1000 genomes]
rs12924631	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1345868	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34028112	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34358623	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34680964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731378	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733127	0.88[ASN][1000 genomes]
rs71403864	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7185575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7190257	0.95[ASN][1000 genomes]
rs7192860	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7197104	0.80[EUR][1000 genomes]
rs7205340	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8046629	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8049163	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053623	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71659000-71661400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr16:71659600-71661200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:71659600-71661200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr16:71659600-71661200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:71659600-71661200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:71659600-71661400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr16:71659600-71661600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr16:71659600-71661800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr16:71659600-71661800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:71659600-71661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:71659600-71662000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:71659600-71662000	Active TSS	Duodenum Mucosa	Duodenum
13	chr16:71659600-71662800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:71659800-71660600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:71659800-71660800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:71659800-71660800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:71659800-71660800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
18	chr16:71659800-71660800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr16:71659800-71660800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr16:71659800-71660800	Bivalent/Poised TSS	A549	lung
21	chr16:71659800-71661000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:71659800-71661000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:71659800-71661200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:71659800-71661200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:71659800-71661200	Active TSS	Small Intestine	intestine
26	chr16:71659800-71661200	Active TSS	HMEC	breast
27	chr16:71659800-71661200	Active TSS	NHEK	skin
28	chr16:71659800-71661600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:71659800-71661600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr16:71659800-71661800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr16:71659800-71661800	Active TSS	Ovary	ovary
32	chr16:71659800-71661800	Active TSS	Pancreas	Pancrea
33	chr16:71659800-71661800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:71659800-71662000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr16:71660000-71660600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:71660000-71660600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr16:71660000-71660600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr16:71660000-71660600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr16:71660000-71660600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:71660000-71660600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr16:71660000-71660600	Active TSS	Brain Anterior Caudate	brain
42	chr16:71660000-71660600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
43	chr16:71660000-71660600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr16:71660000-71660600	Active TSS	GM12878-XiMat	blood
45	chr16:71660000-71660600	Active TSS	HepG2	liver
46	chr16:71660000-71660600	Bivalent/Poised TSS	HSMM	muscle
47	chr16:71660000-71660600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr16:71660000-71660800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:71660000-71660800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71660000-71660800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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