Variant report

Variant	rs4985414
Chromosome Location	chr16:70670242-70670243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70663629..70665540-chr16:70670216..70672264,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11865804	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11866403	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12596475	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12598248	0.82[ASN][1000 genomes]
rs12598251	0.86[ASN][1000 genomes]
rs12598456	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12598945	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12598955	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12919296	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12919451	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12920334	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12920529	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12923477	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12923630	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12923637	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12924304	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12925493	0.92[ASN][1000 genomes]
rs12926402	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12929463	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12929508	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12935541	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329733	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16970408	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs33998678	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34426756	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34644948	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34692833	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34811595	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34881169	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35283920	0.82[AMR][1000 genomes]
rs35285555	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35290416	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35381200	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35437297	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35794088	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36097154	0.98[ASN][1000 genomes]
rs3813905	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4985413	0.98[ASN][1000 genomes]
rs4985415	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4985546	0.98[ASN][1000 genomes]
rs4985549	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4985550	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4985551	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985553	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55872380	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56220651	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57738457	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57752020	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59865481	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61170208	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs68049363	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs71401818	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7191249	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8060584	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8061329	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70668600-70670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:70668600-70670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70668600-70670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:70669000-70670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:70669000-70670600	Enhancers	Aorta	Aorta
7	chr16:70669200-70670600	Strong transcription	Fetal Intestine Small	intestine
8	chr16:70669400-70672800	Weak transcription	Esophagus	oesophagus
9	chr16:70669400-70673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:70669400-70673200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:70669400-70673200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:70669400-70673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:70669400-70673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:70669600-70670400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr16:70669600-70670400	Enhancers	NHDF-Ad	bronchial
17	chr16:70669600-70670400	Enhancers	Osteobl	bone
18	chr16:70669600-70670600	Enhancers	HUVEC	blood vessel
19	chr16:70669600-70671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:70669600-70672600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:70669600-70672600	Weak transcription	Fetal Stomach	stomach
22	chr16:70669600-70672600	Weak transcription	NHEK	skin
23	chr16:70669600-70672800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:70669600-70672800	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:70669600-70672800	Weak transcription	HSMMtube	muscle
26	chr16:70669600-70672800	Weak transcription	NH-A	brain
27	chr16:70669600-70673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:70669600-70673000	Weak transcription	Ovary	ovary
29	chr16:70669600-70673200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:70669600-70674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
34	chr16:70670000-70672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:70670200-70673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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