Variant report

Variant	rs9931717
Chromosome Location	chr16:71813959-71813960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71809511..71811368-chr16:71813247..71816023,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1035545	0.82[EUR][1000 genomes]
rs10459804	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10459805	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10500559	0.81[EUR][1000 genomes]
rs1058747	0.80[EUR][1000 genomes]
rs11075900	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11075902	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11539980	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11640725	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11641873	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11645467	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11646635	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11646748	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11648674	0.82[EUR][1000 genomes]
rs12051443	0.80[EUR][1000 genomes]
rs12051506	0.81[EUR][1000 genomes]
rs12447856	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12448226	0.84[EUR][1000 genomes]
rs12597065	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12597418	0.82[EUR][1000 genomes]
rs12598902	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12920243	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12924258	0.85[EUR][1000 genomes]
rs12925587	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12926987	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12927320	0.80[EUR][1000 genomes]
rs12930206	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12932850	0.80[EUR][1000 genomes]
rs12935426	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1392483	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1392487	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2036337	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2036338	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270830	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270831	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270832	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278031	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2303224	0.81[EUR][1000 genomes]
rs2303225	0.80[EUR][1000 genomes]
rs2334879	0.81[EUR][1000 genomes]
rs28439683	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28582831	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28636800	0.84[EUR][1000 genomes]
rs28704189	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34161748	0.85[EUR][1000 genomes]
rs34401601	0.85[EUR][1000 genomes]
rs34734042	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34764568	0.81[EUR][1000 genomes]
rs35173463	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3751817	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3752681	0.80[EUR][1000 genomes]
rs3848389	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3925658	0.82[EUR][1000 genomes]
rs4788442	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788549	0.84[EUR][1000 genomes]
rs4788551	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788552	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788554	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788558	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4788821	0.81[EUR][1000 genomes]
rs4788826	0.85[EUR][1000 genomes]
rs4788827	0.85[EUR][1000 genomes]
rs57997630	0.81[EUR][1000 genomes]
rs60881203	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62053107	0.80[EUR][1000 genomes]
rs62053108	0.82[EUR][1000 genomes]
rs7185997	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7404381	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8048057	0.84[EUR][1000 genomes]
rs8048210	0.84[EUR][1000 genomes]
rs8052489	0.84[EUR][1000 genomes]
rs8052999	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8060867	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8062441	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8062477	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8203	0.80[EUR][1000 genomes]
rs918721	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs951453	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs951939	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9921270	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9922054	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9925069	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9925228	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9927336	0.84[EUR][1000 genomes]
rs9927437	0.84[EUR][1000 genomes]
rs9936903	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9937280	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9939455	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9940217	0.85[EUR][1000 genomes]
rs9940990	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][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	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
4	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
5	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71805200-71821200	Weak transcription	K562	blood
13	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
15	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney
16	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
17	chr16:71807600-71814600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:71807600-71815000	Weak transcription	NH-A	brain
19	chr16:71807600-71815200	Weak transcription	NHDF-Ad	bronchial
20	chr16:71807600-71816600	Weak transcription	Brain Angular Gyrus	brain
21	chr16:71807600-71816600	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:71807600-71817400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:71807600-71821200	Weak transcription	Fetal Brain Male	brain
24	chr16:71807800-71815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:71807800-71816800	Weak transcription	Brain Anterior Caudate	brain
26	chr16:71807800-71822600	Weak transcription	Aorta	Aorta
27	chr16:71808000-71820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:71808000-71829800	Weak transcription	NHLF	lung
29	chr16:71808200-71820200	Weak transcription	Right Ventricle	heart
30	chr16:71808200-71821200	Weak transcription	Colonic Mucosa	Colon
31	chr16:71808400-71815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
33	chr16:71808600-71814600	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:71808600-71815400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:71808600-71820600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71808600-71821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:71808800-71815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:71808800-71821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:71809400-71816000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:71810200-71814400	Weak transcription	Primary B cells from cord blood	blood
41	chr16:71810400-71816000	Weak transcription	HSMM	muscle
42	chr16:71810400-71820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:71810600-71821400	Weak transcription	HUVEC	blood vessel
44	chr16:71811000-71814000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:71811000-71815000	Strong transcription	Fetal Intestine Small	intestine
46	chr16:71811000-71815600	Strong transcription	Fetal Intestine Large	intestine
47	chr16:71811400-71814600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:71811600-71817000	Strong transcription	GM12878-XiMat	blood
49	chr16:71811800-71814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:71811800-71814600	Weak transcription	Left Ventricle	heart

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