Variant report

Variant	rs8016074
Chromosome Location	chr14:97344066-97344067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147248	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094552	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094594	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs7149464	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355679	0.92[EUR][1000 genomes]
rs7494297	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.97[EUR][1000 genomes]
rs9635293	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:97303400-97371600	Weak transcription	Ovary	ovary
7	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
8	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:97314800-97347600	Weak transcription	Lung	lung
10	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:97315600-97346600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
13	chr14:97316000-97344400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:97322000-97344600	Weak transcription	HUVEC	blood vessel
15	chr14:97322000-97348400	Weak transcription	HSMM	muscle
16	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
17	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:97324000-97352600	Weak transcription	HMEC	breast
20	chr14:97324200-97346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:97324400-97346000	Weak transcription	HepG2	liver
25	chr14:97324800-97346600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
27	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
28	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:97330400-97345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:97331000-97378400	Weak transcription	A549	lung
31	chr14:97331400-97347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:97331800-97346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:97333000-97348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:97337400-97354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
36	chr14:97338600-97348200	Weak transcription	Small Intestine	intestine
37	chr14:97339400-97344200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:97340000-97344200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:97340200-97345000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:97340200-97350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:97340400-97344400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:97340800-97346600	Weak transcription	Pancreas	Pancrea
43	chr14:97340800-97348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:97340800-97348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:97341000-97348000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:97341000-97354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:97341600-97345000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:97342000-97344200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:97342000-97344200	Strong transcription	K562	blood

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