Variant report

Variant	rs62466346
Chromosome Location	chr7:101344992-101344993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101331169..101333172-chr7:101342500..101345849,4	MCF-7	breast:
2	chr7:101338468..101347550-chr7:101456060..101461227,20	MCF-7	breast:
3	chr7:101342279..101347280-chr7:101371204..101374879,9	MCF-7	breast:
4	chr7:101343772..101345970-chr7:101456777..101460387,4	MCF-7	breast:
5	chr7:101344423..101347351-chr7:101356075..101358287,2	MCF-7	breast:
6	chr7:101344436..101347145-chr7:101349476..101351010,2	MCF-7	breast:
7	chr7:101343400..101345941-chr7:101650258..101652233,2	MCF-7	breast:
8	chr7:101342424..101345349-chr7:101371267..101374522,4	MCF-7	breast:
9	chr7:101343438..101347365-chr7:101457900..101460763,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10239715	1.00[ASN][1000 genomes]
rs10269590	1.00[ASN][1000 genomes]
rs10270145	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278430	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10278534	1.00[ASN][1000 genomes]
rs10447812	1.00[ASN][1000 genomes]
rs11771998	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11772618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667267	1.00[ASN][1000 genomes]
rs1619382	1.00[ASN][1000 genomes]
rs1636440	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1636441	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1636442	0.89[AMR][1000 genomes]
rs1636443	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1636447	0.86[AMR][1000 genomes]
rs1722218	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1722224	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1722226	1.00[ASN][1000 genomes]
rs1722229	1.00[ASN][1000 genomes]
rs2529183	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263675	1.00[ASN][1000 genomes]
rs4276617	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4436052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4490765	1.00[ASN][1000 genomes]
rs4535653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727503	1.00[ASN][1000 genomes]
rs4727504	1.00[ASN][1000 genomes]
rs4727505	1.00[ASN][1000 genomes]
rs4727506	1.00[ASN][1000 genomes]
rs4729747	1.00[ASN][1000 genomes]
rs56381219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60702821	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463667	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62463668	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62463669	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62463670	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463671	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463672	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463674	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463675	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463676	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463677	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62463717	1.00[AFR][1000 genomes]
rs62466309	1.00[ASN][1000 genomes]
rs62466310	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466312	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466343	1.00[ASN][1000 genomes]
rs62466344	1.00[ASN][1000 genomes]
rs62466345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466349	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466350	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62466351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466355	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466356	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957219	1.00[ASN][1000 genomes]
rs6960571	1.00[ASN][1000 genomes]
rs757820	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757821	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757822	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757823	1.00[ASN][1000 genomes]
rs757824	1.00[ASN][1000 genomes]
rs7785622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796161	1.00[AFR][1000 genomes]
rs7799319	1.00[ASN][1000 genomes]
rs7809926	1.00[ASN][1000 genomes]
rs7811421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848644	1.00[ASN][1000 genomes]
rs848645	1.00[ASN][1000 genomes]
rs848646	1.00[ASN][1000 genomes]
rs848654	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101342600-101346400	Enhancers	Fetal Intestine Large	intestine
3	chr7:101343200-101345000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:101343400-101345600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:101343400-101346200	Enhancers	HepG2	liver
6	chr7:101343400-101350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:101344200-101346200	Enhancers	Fetal Intestine Small	intestine
8	chr7:101344600-101345400	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:101344600-101346200	Enhancers	Stomach Mucosa	stomach
10	chr7:101344800-101345200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:101344800-101345200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr7:101344800-101345400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:101344800-101345600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr7:101344800-101345800	Active TSS	Colonic Mucosa	Colon
15	chr7:101344800-101346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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