Variant report

Variant	rs12102523
Chromosome Location	chr16:70669707-70669708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11075774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12102388	1.00[EUR][1000 genomes]
rs12102525	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335470	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336968	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338169	0.91[AMR][1000 genomes]
rs1902563	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28434516	1.00[EUR][1000 genomes]
rs28780486	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28814369	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59710171	0.91[AMR][1000 genomes]
rs60020150	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60337219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60611474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774382	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499327	0.86[YRI][hapmap]
rs7186416	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575026	0.91[AMR][1000 genomes]
rs8056766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063038	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064109	0.84[AMR][1000 genomes]
rs8064220	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938385	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:36 , 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	chr16:70669000-70670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:70669000-70670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:70669000-70670200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:70669000-70670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:70669000-70670600	Enhancers	Aorta	Aorta
10	chr16:70669200-70670600	Strong transcription	Fetal Intestine Small	intestine
11	chr16:70669400-70672800	Weak transcription	Esophagus	oesophagus
12	chr16:70669400-70673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:70669400-70673200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:70669400-70673200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:70669400-70673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:70669400-70673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:70669600-70670400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:70669600-70670400	Enhancers	NHDF-Ad	bronchial
20	chr16:70669600-70670400	Enhancers	Osteobl	bone
21	chr16:70669600-70670600	Enhancers	HUVEC	blood vessel
22	chr16:70669600-70671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:70669600-70672600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:70669600-70672600	Weak transcription	Fetal Stomach	stomach
25	chr16:70669600-70672600	Weak transcription	NHEK	skin
26	chr16:70669600-70672800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:70669600-70672800	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:70669600-70672800	Weak transcription	HSMMtube	muscle
29	chr16:70669600-70672800	Weak transcription	NH-A	brain
30	chr16:70669600-70673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:70669600-70673000	Weak transcription	Ovary	ovary
32	chr16:70669600-70673200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:70669600-70674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:70669600-70687800	Weak transcription	Right Atrium	heart

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