Variant report

Variant	rs8056707
Chromosome Location	chr16:69935633-69935634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69934758..69936318-chr16:69938966..69941427,2	K562	blood:
2	chr16:69932903..69936728-chr16:69937454..69941070,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10852459	0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs1112183	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs16959109	1.00[MEX][hapmap]
rs16959116	1.00[MEX][hapmap]
rs2937125	0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs2965757	0.87[JPT][hapmap]
rs2965758	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4985547	0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs7184995	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
3	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
4	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:69913600-69950400	Weak transcription	A549	lung
7	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:69923200-69938600	Weak transcription	Ovary	ovary
9	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
10	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr16:69923800-69936000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:69923800-69936400	Weak transcription	Lung	lung
13	chr16:69923800-69938600	Weak transcription	Aorta	Aorta
14	chr16:69923800-69938600	Weak transcription	K562	blood
15	chr16:69923800-69939800	Weak transcription	HSMM	muscle
16	chr16:69923800-69940400	Weak transcription	HSMMtube	muscle
17	chr16:69923800-69942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:69923800-69949200	Weak transcription	Dnd41	blood
19	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
20	chr16:69924000-69942600	Weak transcription	NHEK	skin
21	chr16:69924200-69936000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:69924400-69936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:69924600-69942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:69924800-69940400	Weak transcription	HMEC	breast
26	chr16:69925000-69939600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:69925000-69940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:69925000-69942400	Weak transcription	Esophagus	oesophagus
29	chr16:69925000-69942600	Weak transcription	Colonic Mucosa	Colon
30	chr16:69925000-69942800	Weak transcription	Fetal Lung	lung
31	chr16:69925200-69939200	Strong transcription	Fetal Intestine Small	intestine
32	chr16:69925200-69940200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:69925400-69937800	Weak transcription	Adipose Nuclei	Adipose
34	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
35	chr16:69925600-69936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:69925600-69936000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:69925600-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:69925800-69942800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:69926000-69942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:69926000-69942600	Weak transcription	Left Ventricle	heart
41	chr16:69927200-69942400	Weak transcription	Fetal Stomach	stomach
42	chr16:69927400-69942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:69927400-69950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:69928800-69938600	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:69928800-69938600	Weak transcription	Stomach Mucosa	stomach
46	chr16:69928800-69942400	Weak transcription	Liver	Liver
47	chr16:69928800-69942400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:69928800-69942600	Weak transcription	Fetal Brain Female	brain
49	chr16:69929200-69936200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:69929200-69936800	Weak transcription	Spleen	Spleen

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