Variant report

Variant	rs12919626
Chromosome Location	chr16:74755930-74755931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74746391..74748501-chr16:74754468..74756248,2	K562	blood:
2	chr16:74751611..74753293-chr16:74754163..74756855,2	MCF-7	breast:
3	chr16:74755490..74757573-chr16:74758717..74760850,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1024503	1.00[ASN][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]
rs12921263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs34130324	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34393456	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398985	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937987	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34992867	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35038783	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35173843	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195349	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35456018	1.00[ASN][1000 genomes]
rs35937344	0.93[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]
rs71392613	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71392614	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71392615	0.94[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]
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:11 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12919626	ZNF23	cis	cerebellum	SCAN
rs12919626	LDHD	cis	cerebellum	SCAN
rs12919626	WDR59	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74735000-74760000	Weak transcription	Esophagus	oesophagus
2	chr16:74743800-74759000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:74743800-74759400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:74743800-74760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:74744000-74760600	Weak transcription	Hela-S3	cervix
6	chr16:74744000-74760800	Weak transcription	Stomach Mucosa	stomach
7	chr16:74744000-74760800	Weak transcription	A549	lung
8	chr16:74744200-74758200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:74748200-74758400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:74748400-74758200	Weak transcription	Gastric	stomach
11	chr16:74749000-74758200	Weak transcription	Colonic Mucosa	Colon
12	chr16:74750400-74758200	Weak transcription	Pancreas	Pancrea
13	chr16:74752600-74757200	Weak transcription	Brain Angular Gyrus	brain
14	chr16:74752800-74757000	Weak transcription	Brain Substantia Nigra	brain
15	chr16:74753200-74759200	Weak transcription	Fetal Thymus	thymus
16	chr16:74753400-74757000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:74753400-74757000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:74753400-74760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:74754000-74760800	Weak transcription	Thymus	Thymus
20	chr16:74755000-74759200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:74755400-74756000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:74755400-74756000	Enhancers	Brain Anterior Caudate	brain
23	chr16:74755400-74756000	Enhancers	Brain Hippocampus Middle	brain
24	chr16:74755800-74756000	Strong transcription	Fetal Intestine Small	intestine
25	chr16:74755800-74757000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:74755800-74757000	Weak transcription	Fetal Intestine Large	intestine
27	chr16:74755800-74757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:74755800-74760600	Weak transcription	Spleen	Spleen

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