Variant report

Variant	rs2085706
Chromosome Location	chr7:16792952-16792953
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	chr7:16792899-16793746	SK-N-MC	brain:	n/a	n/a
2	SP1	chr7:16792920-16793466	A549	lung:	n/a	chr7:16793142-16793156 chr7:16793206-16793217 chr7:16793252-16793266 chr7:16793142-16793151 chr7:16793142-16793152 chr7:16793322-16793343 chr7:16793355-16793367 chr7:16793251-16793263 chr7:16793141-16793153 chr7:16793356-16793365 chr7:16793355-16793367 chr7:16793252-16793261 chr7:16793357-16793366 chr7:16793251-16793263 chr7:16793141-16793153 chr7:16793143-16793152
3	POLR2A	chr7:16792902-16794333	H1-neurons	neurons:	n/a	n/a
4	YY1	chr7:16792952-16793195	K562	blood:	n/a	chr7:16793055-16793071
5	TCF12	chr7:16792812-16793340	A549	lung:	n/a	n/a
6	GTF2F1	chr7:16792910-16793186	Hela-S3	cervix:	n/a	n/a
7	USF1	chr7:16792938-16793414	ECC-1	luminal epithelium:	n/a	chr7:16793378-16793394
8	MAZ	chr7:16792916-16793719	HepG2	liver:	n/a	chr7:16793142-16793152
9	CEBPB	chr7:16792883-16793054	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr7:16792949-16793263	MCF10A-Er-Src	breast:	n/a	chr7:16793005-16793013 chr7:16793232-16793244
11	MAFK	chr7:16792932-16793378	Hela-S3	cervix:	n/a	n/a
12	YY1	chr7:16792925-16793312	ECC-1	luminal epithelium:	n/a	chr7:16793055-16793071
13	MAX	chr7:16792744-16793594	HCT-116	colon:	n/a	chr7:16793142-16793152
14	ZBTB7A	chr7:16792908-16794264	ECC-1	luminal epithelium:	n/a	chr7:16793755-16793764
15	TAF1	chr7:16792937-16794340	H1-neurons	neurons:	n/a	n/a
16	CREB1	chr7:16792918-16793364	ECC-1	luminal epithelium:	n/a	chr7:16793066-16793079
17	MAZ	chr7:16792946-16794391	K562	blood:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
18	USF2	chr7:16792916-16793219	Hela-S3	cervix:	n/a	n/a
19	YY1	chr7:16792902-16793185	A549	lung:	n/a	chr7:16793055-16793071
20	TEAD4	chr7:16792837-16793273	K562	blood:	n/a	n/a
21	YY1	chr7:16792882-16793313	ECC-1	luminal epithelium:	n/a	chr7:16793055-16793071
22	HCFC1	chr7:16792787-16793666	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr7:16792835-16793389	K562	blood:	n/a	n/a
24	TCF12	chr7:16792927-16794273	ECC-1	luminal epithelium:	n/a	n/a
25	CREB1	chr7:16792884-16793333	ECC-1	luminal epithelium:	n/a	chr7:16793066-16793079
26	CEBPB	chr7:16792867-16793354	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:16792929-16793617	HCT-116	colon:	n/a	n/a
28	FOS	chr7:16792856-16793297	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr7:16792937-16794265	K562	blood:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
30	MYBL2	chr7:16792914-16793251	HepG2	liver:	n/a	n/a
31	MYC	chr7:16792889-16793288	MCF10A-Er-Src	breast:	n/a	chr7:16793142-16793152
32	REST	chr7:16792659-16794813	H1-neurons	neurons:	n/a	chr7:16793243-16793256 chr7:16793352-16793365
33	MAX	chr7:16792711-16794269	ECC-1	luminal epithelium:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
34	MAX	chr7:16792895-16793593	Hela-S3	cervix:	n/a	chr7:16793142-16793152
35	CREB1	chr7:16792952-16793469	A549	lung:	n/a	chr7:16793066-16793079
36	YY1	chr7:16792841-16793332	SK-N-SH_RA	brain:	n/a	chr7:16793055-16793071
37	POLR2A	chr7:16792888-16794306	H1-neurons	neurons:	n/a	n/a
38	MAX	chr7:16792834-16794342	A549	lung:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
39	EP300	chr7:16792926-16793704	ECC-1	luminal epithelium:	n/a	chr7:16793392-16793401 chr7:16793187-16793203
40	MAX	chr7:16792898-16794359	HepG2	liver:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
41	SIN3AK20	chr7:16792754-16794965	MCF-7	breast:	n/a	n/a
42	MAX	chr7:16792783-16793472	MCF-7	breast:	n/a	chr7:16793142-16793152
43	MAX	chr7:16792843-16794373	HCT-116	colon:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
44	CEBPB	chr7:16792837-16793375	MCF-7	breast:	n/a	n/a
45	CREB1	chr7:16792915-16793351	K562	blood:	n/a	chr7:16793066-16793079
46	EP300	chr7:16792882-16793456	T-47D	breast:	n/a	chr7:16793392-16793401 chr7:16793187-16793203
47	BRCA1	chr7:16792937-16793292	Hela-S3	cervix:	n/a	n/a
48	MAX	chr7:16792925-16793438	K562	blood:	n/a	chr7:16793142-16793152
49	MYC	chr7:16792934-16795114	K562	blood:	n/a	chr7:16793142-16793152 chr7:16793788-16793798 chr7:16793916-16793926
50	ATF1	chr7:16792910-16793257	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
2	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
3	chr17:39676906..39679215-chr7:16792005..16794424,2	MCF-7	breast:
4	chr7:16684788..16686640-chr7:16792209..16794458,2	MCF-7	breast:
5	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:

Variant related genes	Relation type
TSPAN13	TF binding region
ENSG00000136261	Chromatin interaction
ENSG00000214960	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000171346	Chromatin interaction
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10233465	1.00[ASN][1000 genomes]
rs10238328	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149519	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1149522	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149524	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149526	0.88[ASN][1000 genomes]
rs12530923	0.87[ASN][1000 genomes]
rs12535558	0.87[ASN][1000 genomes]
rs13244013	0.92[ASN][1000 genomes]
rs1997114	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1997115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290836	0.81[ASN][1000 genomes]
rs2290837	0.81[ASN][1000 genomes]
rs34614062	0.87[ASN][1000 genomes]
rs3779051	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807490	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807509	0.98[ASN][1000 genomes]
rs3823652	0.87[ASN][1000 genomes]
rs4400279	0.87[ASN][1000 genomes]
rs4721535	0.99[ASN][1000 genomes]
rs4721536	0.98[ASN][1000 genomes]
rs4721538	0.84[ASN][1000 genomes]
rs55802535	0.84[ASN][1000 genomes]
rs62441050	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6461275	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6962578	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6975847	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980298	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs706055	0.99[ASN][1000 genomes]
rs73299615	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7781646	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7809197	1.00[ASN][1000 genomes]
rs818803	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs818804	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16781400-16793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:16787000-16793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:16787200-16793000	Weak transcription	Left Ventricle	heart
4	chr7:16788600-16793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:16791800-16793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:16792600-16794200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:16792800-16793000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:16792800-16793000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:16792800-16793000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:16792800-16793000	Active TSS	Primary B cells from cord blood	blood
11	chr7:16792800-16793000	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:16792800-16793000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:16792800-16793000	Enhancers	Liver	Liver
14	chr7:16792800-16793000	Enhancers	Fetal Intestine Large	intestine
15	chr7:16792800-16793000	Active TSS	Fetal Stomach	stomach
16	chr7:16792800-16793000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:16792800-16793000	Enhancers	Stomach Mucosa	stomach
18	chr7:16792800-16793000	Enhancers	Spleen	Spleen
19	chr7:16792800-16793200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:16792800-16793200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:16792800-16793200	Flanking Active TSS	HepG2	liver
22	chr7:16792800-16793200	Flanking Active TSS	HUVEC	blood vessel
23	chr7:16792800-16793200	Flanking Active TSS	NH-A	brain
24	chr7:16792800-16793400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:16792800-16793400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:16792800-16793600	Active TSS	Primary hematopoietic stem cells	blood
27	chr7:16792800-16793600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:16792800-16793600	Active TSS	Brain Germinal Matrix	brain
29	chr7:16792800-16793600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr7:16792800-16793600	Active TSS	Fetal Thymus	thymus
31	chr7:16792800-16793600	Active TSS	Thymus	Thymus
32	chr7:16792800-16794000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:16792800-16794000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:16792800-16794000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:16792800-16794000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:16792800-16794000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:16792800-16794000	Active TSS	Primary T cells from cord blood	blood
38	chr7:16792800-16794000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:16792800-16794000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:16792800-16794000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:16792800-16794000	Active TSS	HMEC	breast
42	chr7:16792800-16794000	Active TSS	NHEK	skin
43	chr7:16792800-16794200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:16792800-16794200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:16792800-16794200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:16792800-16794200	Active TSS	A549	lung
47	chr7:16792800-16794200	Active TSS	K562	blood
48	chr7:16792800-16794400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:16792800-16794400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr7:16792800-16794400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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