Variant report

Variant	rs12596724
Chromosome Location	chr16:75622308-75622309
allele	C/T
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75613514..75616148-chr16:75621638..75623239,2	K562	blood:
2	chr16:75621135..75623651-chr16:75625783..75627989,2	K562	blood:
3	chr16:75613643..75617035-chr16:75620700..75623039,3	MCF-7	breast:
4	chr16:75602647..75604231-chr16:75619831..75622343,2	MCF-7	breast:
5	chr16:75618240..75621065-chr16:75621987..75626316,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAT1-1	chr16:75616487-75622358	XLOC_012011

No data

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10871314	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11149842	0.87[JPT][hapmap];0.84[AMR][1000 genomes]
rs12443899	0.81[EUR][1000 genomes]
rs12445389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12445937	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12446652	0.99[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12595883	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12596033	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12596083	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12596857	0.81[ASN][1000 genomes]
rs12598094	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12598741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12598751	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12599212	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12599322	0.93[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12600066	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12600271	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16940253	0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16940467	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17697211	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17764821	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17764918	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1812507	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1836547	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1865493	0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1979717	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059261	0.84[AMR][1000 genomes]
rs2164245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242406	1.00[CEU][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278469	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289063	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2903096	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35977374	0.80[AMR][1000 genomes]
rs3736377	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3743599	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3743601	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3743603	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743605	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3784929	0.87[JPT][hapmap]
rs3826108	0.85[AMR][1000 genomes]
rs3851741	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41505349	0.87[JPT][hapmap]
rs4482320	0.86[AMR][1000 genomes]
rs4633754	0.80[AMR][1000 genomes]
rs4887833	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4887835	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887836	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887837	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888436	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888437	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888440	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888442	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888444	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4888448	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888449	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888451	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888455	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5010692	0.87[JPT][hapmap]
rs56954102	0.81[EUR][1000 genomes]
rs57208266	0.87[EUR][1000 genomes]
rs57252551	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58091977	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58264015	0.84[AMR][1000 genomes]
rs58273293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58508930	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58533792	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58597869	0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58673511	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58719566	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58846463	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59449831	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59907199	0.91[AMR][1000 genomes]
rs60393074	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60952428	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61036571	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61078946	0.83[AMR][1000 genomes]
rs61164110	0.83[AMR][1000 genomes]
rs61183686	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61537885	1.00[EUR][1000 genomes]
rs61539645	0.85[AMR][1000 genomes]
rs6564268	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7186966	0.81[ASN][1000 genomes]
rs7187419	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7187672	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193066	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7195338	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs719574	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7206799	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74027438	0.93[AMR][1000 genomes]
rs7499759	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8048533	0.80[AMR][1000 genomes]
rs8051241	0.84[ASN][1000 genomes]
rs8051713	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053219	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs8055329	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8056968	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8060972	0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8192516	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs963820	0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9788802	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9934159	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active 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	44 gene(s)	inside rSNPs	diseases
6	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75604200-75622600	Weak transcription	Right Atrium	heart
3	chr16:75607000-75623200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
5	chr16:75609000-75627800	Weak transcription	NHEK	skin
6	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
7	chr16:75610600-75622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:75610600-75622800	Weak transcription	Fetal Heart	heart
9	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
11	chr16:75611000-75624800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:75611400-75622600	Weak transcription	Right Ventricle	heart
13	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
14	chr16:75611800-75628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:75612000-75622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:75612000-75627400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:75612000-75627400	Weak transcription	Psoas Muscle	Psoas
18	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
20	chr16:75612400-75624600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:75612400-75631000	Weak transcription	Gastric	stomach
22	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
23	chr16:75613200-75622800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:75613200-75622800	Weak transcription	Brain Germinal Matrix	brain
25	chr16:75613200-75624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:75613200-75624400	Weak transcription	K562	blood
27	chr16:75613200-75624600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:75613200-75624800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:75613200-75624800	Weak transcription	NHLF	lung
30	chr16:75613200-75627200	Weak transcription	HepG2	liver
31	chr16:75613200-75627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr16:75613400-75624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:75613400-75624400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:75613400-75624400	Weak transcription	HSMM	muscle
36	chr16:75613400-75624600	Weak transcription	NH-A	brain
37	chr16:75613400-75624800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:75613400-75624800	Weak transcription	NHDF-Ad	bronchial
39	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:75613600-75622600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:75613600-75627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr16:75613600-75630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:75613600-75631000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:75613600-75633000	Weak transcription	Ovary	ovary
46	chr16:75613800-75622800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:75613800-75627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:75613800-75627800	Weak transcription	A549	lung
49	chr16:75613800-75627800	Weak transcription	HUVEC	blood vessel
50	chr16:75613800-75630800	Weak transcription	HMEC	breast

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