Variant report

Variant	rs16970520
Chromosome Location	chr16:70795840-70795841
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	chr16:70779313..70782251-chr16:70793446..70796523,4	K562	blood:

Variant related genes	Relation type
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16970491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970498	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970545	0.86[LWK][hapmap]
rs17841356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3907716	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs60287657	1.00[AMR][1000 genomes]
rs7192013	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
5	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:70781200-70798600	Weak transcription	Hela-S3	cervix
6	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:70783800-70797000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:70785600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
14	chr16:70786400-70797400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:70786800-70803200	Strong transcription	Thymus	Thymus
17	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:70787000-70796400	Strong transcription	Primary B cells from cord blood	blood
19	chr16:70787200-70796800	Strong transcription	Pancreas	Pancrea
20	chr16:70787400-70799200	Weak transcription	Ovary	ovary
21	chr16:70788000-70801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr16:70788200-70798000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:70788400-70797200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:70788400-70802000	Weak transcription	Psoas Muscle	Psoas
26	chr16:70788600-70800400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:70788600-70803600	Strong transcription	Spleen	Spleen
28	chr16:70789000-70797200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:70789400-70797200	Strong transcription	Adipose Nuclei	Adipose
30	chr16:70789400-70804200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:70789600-70800800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:70789600-70810400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:70789800-70801000	Strong transcription	Lung	lung
34	chr16:70789800-70804600	Weak transcription	Fetal Heart	heart
35	chr16:70790000-70797000	Strong transcription	Gastric	stomach
36	chr16:70790000-70797200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:70790000-70798200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:70790000-70801200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:70790000-70801200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:70790600-70799000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr16:70790800-70804000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr16:70791600-70797200	Strong transcription	Dnd41	blood
43	chr16:70792400-70797200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:70793000-70796400	Weak transcription	Colonic Mucosa	Colon
45	chr16:70793000-70796600	Strong transcription	Fetal Lung	lung
46	chr16:70793400-70796000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:70793400-70796000	Enhancers	NHDF-Ad	bronchial
48	chr16:70793600-70796000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:70793600-70796000	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr16:70793600-70796000	Genic enhancers	Fetal Intestine Large	intestine

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