Variant report

Variant	rs3751817
Chromosome Location	chr16:71764834-71764835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71762201..71765356-chr16:71767095..71769996,3	K562	blood:
2	chr16:71755440..71760927-chr16:71762234..71766346,5	K562	blood:
3	chr16:71756698..71758936-chr16:71764476..71768117,3	MCF-7	breast:
4	chr16:71760858..71762927-chr16:71764626..71767390,2	MCF-7	breast:
5	chr16:71763234..71765356-chr16:71767095..71769996,2	K562	blood:
6	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:

Variant related genes	Relation type
ENSG00000260612	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10083757	0.82[ASN][1000 genomes]
rs10220961	0.84[ASN][1000 genomes]
rs1035545	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459804	0.84[EUR][1000 genomes]
rs10459805	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10500559	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1058747	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10775326	0.83[ASN][1000 genomes]
rs11075891	0.83[AMR][1000 genomes]
rs11075892	0.82[AMR][1000 genomes]
rs11075895	0.83[ASN][1000 genomes]
rs11075900	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075902	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11539980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11640725	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11641873	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643690	0.84[AMR][1000 genomes]
rs11645467	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646635	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648674	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11859729	0.95[ASN][1000 genomes]
rs11865683	0.89[ASN][1000 genomes]
rs12051443	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12051449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12051506	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12149092	0.85[ASN][1000 genomes]
rs12149873	0.82[ASN][1000 genomes]
rs12444484	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12447856	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12448226	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12597065	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12598902	0.87[EUR][1000 genomes]
rs12920243	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12922859	0.86[ASN][1000 genomes]
rs12923644	0.91[ASN][1000 genomes]
rs12924258	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12925587	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926987	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12927320	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12928187	0.94[ASN][1000 genomes]
rs12930206	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12932850	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12935426	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13380425	0.90[ASN][1000 genomes]
rs1392483	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1392487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1582589	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2010428	0.90[ASN][1000 genomes]
rs2036337	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036338	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113222	0.83[AMR][1000 genomes]
rs2270829	0.86[ASN][1000 genomes]
rs2270830	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270831	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270832	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278031	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303224	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2303225	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2334879	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2334883	0.82[AMR][1000 genomes]
rs2334884	0.82[AMR][1000 genomes]
rs2335716	0.91[ASN][1000 genomes]
rs28439683	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28582831	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28636800	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28704189	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34161748	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34401601	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34734042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34764568	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35173463	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3752681	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3848389	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3886515	0.90[ASN][1000 genomes]
rs3925658	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4444347	0.94[ASN][1000 genomes]
rs4788442	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788547	0.83[AMR][1000 genomes]
rs4788549	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788554	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788558	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788814	0.83[AMR][1000 genomes]
rs4788817	0.81[AMR][1000 genomes]
rs4788821	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788826	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788827	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57997630	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60881203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62053107	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62053108	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499532	0.94[ASN][1000 genomes]
rs6499539	0.81[ASN][1000 genomes]
rs7185997	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7186859	0.90[ASN][1000 genomes]
rs7187877	0.87[ASN][1000 genomes]
rs7191593	0.87[ASN][1000 genomes]
rs7192956	0.87[ASN][1000 genomes]
rs7196498	0.95[ASN][1000 genomes]
rs7201228	0.87[ASN][1000 genomes]
rs7201754	0.94[ASN][1000 genomes]
rs7202288	0.95[ASN][1000 genomes]
rs7203168	0.95[ASN][1000 genomes]
rs7203216	0.95[ASN][1000 genomes]
rs7206039	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7404381	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8048057	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8048210	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8051760	0.81[ASN][1000 genomes]
rs8052489	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8052999	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053070	0.91[ASN][1000 genomes]
rs8060867	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8061613	0.87[ASN][1000 genomes]
rs8061970	0.95[ASN][1000 genomes]
rs8062441	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8062477	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8063535	0.95[ASN][1000 genomes]
rs8203	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs918721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs951453	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951939	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9923264	0.83[AMR][1000 genomes]
rs9923336	0.83[AMR][1000 genomes]
rs9925069	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9925228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9927336	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9927437	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9931717	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9932415	0.83[AMR][1000 genomes]
rs9933961	0.83[AMR][1000 genomes]
rs9936903	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9937280	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939455	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9939471	0.82[AMR][1000 genomes]
rs9939658	0.80[AMR][1000 genomes]
rs9940217	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9940707	0.84[ASN][1000 genomes]
rs9940990	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	n/a
5	nsv960025	chr16:71763047-71765882	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758200-71765200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:71758200-71766200	Weak transcription	Gastric	stomach
3	chr16:71758400-71765400	Weak transcription	Fetal Brain Female	brain
4	chr16:71758400-71765600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:71758400-71765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:71758400-71765600	Weak transcription	Brain Substantia Nigra	brain
7	chr16:71758400-71765600	Weak transcription	Fetal Brain Male	brain
8	chr16:71758400-71765600	Weak transcription	Fetal Lung	lung
9	chr16:71758400-71765600	Weak transcription	Pancreas	Pancrea
10	chr16:71758400-71765600	Weak transcription	Spleen	Spleen
11	chr16:71758400-71765800	Weak transcription	Right Ventricle	heart
12	chr16:71758400-71766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:71758400-71766200	Weak transcription	Psoas Muscle	Psoas
14	chr16:71758400-71766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:71758400-71766400	Weak transcription	Esophagus	oesophagus
16	chr16:71758400-71766400	Weak transcription	Right Atrium	heart
17	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:71758600-71765400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr16:71758600-71765400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:71758600-71765600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:71758600-71765600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:71758600-71766200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:71758600-71767400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:71758600-71776800	Weak transcription	Fetal Heart	heart
25	chr16:71758800-71765000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:71758800-71765600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr16:71758800-71765600	Weak transcription	Stomach Mucosa	stomach
28	chr16:71758800-71766200	Weak transcription	Hela-S3	cervix
29	chr16:71760000-71765600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:71760400-71765800	Weak transcription	Lung	lung
31	chr16:71761000-71765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr16:71761200-71765600	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:71761200-71765600	Weak transcription	Colonic Mucosa	Colon
35	chr16:71761200-71765600	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:71761200-71765600	Weak transcription	Ovary	ovary
37	chr16:71761200-71765600	Weak transcription	HepG2	liver
38	chr16:71761400-71766200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:71761800-71766200	Weak transcription	Aorta	Aorta
40	chr16:71761800-71778800	Weak transcription	Small Intestine	intestine
41	chr16:71762000-71765200	Weak transcription	Fetal Intestine Small	intestine
42	chr16:71762200-71765000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:71762200-71766600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:71762600-71774400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:71762800-71765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:71762800-71769400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr16:71763200-71769200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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