Variant report

Variant	rs4985418
Chromosome Location	chr16:69837465-69837466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11075734	0.87[ASW][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs11075738	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075739	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641899	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11643817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447095	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447914	0.80[ASN][1000 genomes]
rs12596679	0.89[MKK][hapmap]
rs16959200	0.80[LWK][hapmap];0.89[YRI][hapmap]
rs2173714	0.90[ASN][1000 genomes]
rs34378064	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3790085	0.91[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs3790086	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap]
rs4275849	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341733	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464069	0.81[MKK][hapmap]
rs4985374	0.80[ASN][1000 genomes]
rs4985445	0.88[ASN][1000 genomes]
rs4985446	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985518	0.82[MKK][hapmap]
rs4985523	0.81[AFR][1000 genomes]
rs60941540	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62051384	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051387	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62051389	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499257	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499260	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68039170	0.80[ASN][1000 genomes]
rs7193221	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194806	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7196917	0.85[CEU][hapmap]
rs7200005	0.85[CEU][hapmap]
rs7202223	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7206585	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73579458	0.82[AFR][1000 genomes]
rs8044920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045682	0.82[MKK][hapmap]
rs8052428	0.91[CEU][hapmap]
rs8057620	0.83[CHD][hapmap]
rs8059645	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8063219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630631	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
4	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
5	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
6	chr16:69817800-69854600	Weak transcription	HMEC	breast
7	chr16:69820200-69845000	Weak transcription	K562	blood
8	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
9	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:69830000-69839000	Strong transcription	HepG2	liver
12	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:69830600-69838400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
17	chr16:69831000-69845000	Weak transcription	Fetal Brain Male	brain
18	chr16:69831000-69845600	Weak transcription	A549	lung
19	chr16:69831000-69852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:69831000-69852400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
22	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:69831200-69846200	Strong transcription	Fetal Intestine Small	intestine
24	chr16:69831600-69838800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr16:69832000-69837800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:69832000-69838800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:69832600-69837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:69832600-69837800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:69832600-69838000	Strong transcription	Primary T cells from cord blood	blood
31	chr16:69832600-69838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:69832600-69840000	Strong transcription	Fetal Intestine Large	intestine
33	chr16:69832600-69840400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr16:69832800-69837800	Strong transcription	Thymus	Thymus
35	chr16:69833000-69837800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:69833200-69854800	Weak transcription	NH-A	brain
37	chr16:69833400-69852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:69833400-69854600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:69833400-69854600	Weak transcription	NHLF	lung
40	chr16:69833600-69845600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:69833600-69847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr16:69833800-69843000	Weak transcription	Esophagus	oesophagus
43	chr16:69833800-69844000	Weak transcription	Pancreas	Pancrea
44	chr16:69833800-69847800	Weak transcription	Adipose Nuclei	Adipose
45	chr16:69833800-69854400	Weak transcription	Osteobl	bone
46	chr16:69833800-69854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:69833800-69854800	Weak transcription	HSMM	muscle
48	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
49	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
50	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum

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