Variant report

Variant	rs3096380
Chromosome Location	chr16:71319646-71319647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10083751	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10775325	0.81[ASN][1000 genomes]
rs12925766	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288045	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs3094447	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094454	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3094458	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096372	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3096373	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3096375	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3096378	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3114640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3114642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4238976	0.85[ASN][1000 genomes]
rs4558424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4627358	0.81[ASN][1000 genomes]
rs8052756	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057396	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9938525	0.81[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71306600-71322600	Weak transcription	Small Intestine	intestine
2	chr16:71315400-71321800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71315800-71322000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:71315800-71322200	Weak transcription	Right Ventricle	heart
5	chr16:71316200-71321000	Strong transcription	HSMM	muscle
6	chr16:71316200-71321400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71316200-71321600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:71316600-71321000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:71316600-71322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:71316600-71322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:71316800-71320000	Strong transcription	Brain Germinal Matrix	brain
12	chr16:71316800-71320600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:71316800-71320600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:71316800-71320600	Strong transcription	Fetal Lung	lung
15	chr16:71316800-71321000	Strong transcription	Primary B cells from cord blood	blood
16	chr16:71316800-71321000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:71316800-71321000	Strong transcription	Left Ventricle	heart
18	chr16:71316800-71321400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:71316800-71321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:71316800-71322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:71316800-71322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:71317000-71320000	Strong transcription	Fetal Brain Female	brain
23	chr16:71317000-71320400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:71317000-71320600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:71317000-71320600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:71317000-71320600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:71317000-71320600	Strong transcription	Fetal Thymus	thymus
28	chr16:71317000-71320600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr16:71317000-71320800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr16:71317000-71321000	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr16:71317000-71321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:71317000-71321000	Strong transcription	Brain Anterior Caudate	brain
33	chr16:71317000-71321000	Strong transcription	Placenta	Placenta
34	chr16:71317000-71321200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:71317000-71321200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:71317000-71321200	Strong transcription	Liver	Liver
37	chr16:71317000-71321200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:71317000-71321400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:71317000-71322000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr16:71317200-71320000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr16:71317200-71320200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:71317200-71320400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:71317200-71320400	Strong transcription	Brain Hippocampus Middle	brain
44	chr16:71317200-71320400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:71317200-71320600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:71317200-71320600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr16:71317200-71320600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:71317200-71320600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:71317200-71320600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr16:71317200-71320600	Strong transcription	Fetal Kidney	kidney

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