Variant report

Variant	rs71392615
Chromosome Location	chr16:74760321-74760322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74758798..74761503-chr16:74767639..74769916,2	K562	blood:
2	chr16:74756655..74761508-chr16:74762443..74765535,5	MCF-7	breast:
3	chr16:74757110..74760963-chr16:74777463..74782866,5	MCF-7	breast:
4	chr16:74755490..74757573-chr16:74758717..74760850,2	MCF-7	breast:
5	chr16:74758826..74760555-chr16:74776363..74778066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263661	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1024503	1.00[ASN][1000 genomes]
rs11554621	0.81[EUR][1000 genomes]
rs11645307	1.00[ASN][1000 genomes]
rs11864313	1.00[ASN][1000 genomes]
rs12444462	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs12919626	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12921263	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs34130324	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34219496	0.81[EUR][1000 genomes]
rs34393456	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34992867	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35038783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35173843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195349	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35456018	1.00[ASN][1000 genomes]
rs35937344	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888281	1.00[ASN][1000 genomes]
rs4985359	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs58303079	1.00[ASN][1000 genomes]
rs62052860	1.00[ASN][1000 genomes]
rs62052861	1.00[ASN][1000 genomes]
rs6564161	0.82[EUR][1000 genomes]
rs71392613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71392614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203228	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs74024559	1.00[ASN][1000 genomes]
rs74024565	1.00[ASN][1000 genomes]
rs8047659	1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][1000 genomes]
rs9937139	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74743800-74760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:74744000-74760600	Weak transcription	Hela-S3	cervix
3	chr16:74744000-74760800	Weak transcription	Stomach Mucosa	stomach
4	chr16:74744000-74760800	Weak transcription	A549	lung
5	chr16:74753400-74760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:74754000-74760800	Weak transcription	Thymus	Thymus
7	chr16:74755800-74760600	Weak transcription	Spleen	Spleen
8	chr16:74756800-74760800	Enhancers	Brain Hippocampus Middle	brain
9	chr16:74757800-74760600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:74758000-74761200	Enhancers	Fetal Intestine Large	intestine
11	chr16:74758600-74760400	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:74758600-74760800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr16:74759000-74760800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:74759000-74763600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:74759000-74763600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:74759000-74763600	Weak transcription	Pancreas	Pancrea
17	chr16:74759200-74760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:74759200-74760800	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:74759200-74760800	Weak transcription	Gastric	stomach
20	chr16:74759400-74760600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:74759400-74760800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr16:74759600-74760800	Weak transcription	Colonic Mucosa	Colon
23	chr16:74759600-74763200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:74759800-74760600	Enhancers	Fetal Intestine Small	intestine
25	chr16:74759800-74760600	Weak transcription	Fetal Thymus	thymus
26	chr16:74759800-74761200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:74760000-74760800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:74760000-74761400	ZNF genes & repeats	Fetal Stomach	stomach
29	chr16:74760000-74763200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:74760200-74760400	Weak transcription	Esophagus	oesophagus
31	chr16:74760200-74760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:74760200-74760600	Weak transcription	Brain Angular Gyrus	brain
33	chr16:74760200-74760600	Weak transcription	Brain Anterior Caudate	brain
34	chr16:74760200-74760600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:74760200-74760600	Weak transcription	Brain Substantia Nigra	brain

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