Variant report

Variant	rs28805320
Chromosome Location	chr16:70702190-70702191
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70700778..70704017-chr16:70704220..70706631,3	K562	blood:
2	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
3	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:

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

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

rs_ID	r²[population]
rs13334862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28796574	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28883880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58896122	0.81[AMR][1000 genomes]
rs73575035	0.89[AMR][1000 genomes]
rs73575039	0.89[AMR][1000 genomes]
rs9934263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938687	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	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
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv906883	chr16:70694000-70704974	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
3	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
4	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
5	chr16:70688600-70702400	Weak transcription	K562	blood
6	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:70695400-70702600	Strong transcription	Brain Germinal Matrix	brain
8	chr16:70695400-70702600	Strong transcription	Thymus	Thymus
9	chr16:70695400-70702800	Strong transcription	Fetal Brain Female	brain
10	chr16:70695600-70712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:70695600-70714200	Strong transcription	Placenta	Placenta
12	chr16:70695600-70714400	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr16:70695600-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:70695600-70714400	Strong transcription	Lung	lung
15	chr16:70695600-70714600	Strong transcription	Liver	Liver
16	chr16:70695800-70702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:70695800-70702600	Strong transcription	HepG2	liver
18	chr16:70695800-70713800	Strong transcription	Fetal Intestine Large	intestine
19	chr16:70695800-70714200	Strong transcription	NHDF-Ad	bronchial
20	chr16:70696000-70702600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:70696000-70707000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:70696000-70714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:70696000-70714200	Strong transcription	Fetal Thymus	thymus
24	chr16:70696400-70705000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr16:70696400-70713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:70696400-70714200	Strong transcription	Fetal Intestine Small	intestine
27	chr16:70696600-70702600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:70696600-70713400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:70696600-70714200	Strong transcription	Fetal Lung	lung
30	chr16:70696800-70713600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:70696800-70714200	Strong transcription	Osteobl	bone
32	chr16:70697000-70702600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:70697000-70704600	Strong transcription	Colon Smooth Muscle	Colon
34	chr16:70697200-70702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:70697200-70702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:70697200-70709800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:70697200-70709800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:70697200-70713400	Strong transcription	Adipose Nuclei	Adipose
39	chr16:70697400-70702400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr16:70697400-70702400	Weak transcription	Fetal Heart	heart
41	chr16:70697400-70706000	Strong transcription	Brain Anterior Caudate	brain
42	chr16:70697400-70713400	Strong transcription	A549	lung
43	chr16:70697600-70709800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr16:70697600-70713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:70697600-70713600	Strong transcription	Fetal Stomach	stomach
46	chr16:70697600-70713600	Strong transcription	Ovary	ovary
47	chr16:70697600-70713800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:70697600-70714200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:70697800-70704600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr16:70697800-70704600	Strong transcription	Brain Angular Gyrus	brain

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