Variant report

Variant	rs28796574
Chromosome Location	chr16:70701668-70701669
allele	C/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	chr16:70700082..70702033-chr16:70779098..70781687,2	MCF-7	breast:
3	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
4	chr16:70695544..70698272-chr16:70698602..70701908,3	K562	blood:
5	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:

Variant related genes	Relation type
ENSG00000260156	Chromatin interaction
ENSG00000268927	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13334862	0.89[AMR][1000 genomes]
rs28805320	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28883880	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73575035	1.00[AMR][1000 genomes]
rs9934263	0.89[AMR][1000 genomes]
rs9938687	0.89[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:109 , 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	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
3	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
4	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
5	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
6	chr16:70688600-70702400	Weak transcription	K562	blood
7	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:70695400-70702600	Strong transcription	Brain Germinal Matrix	brain
9	chr16:70695400-70702600	Strong transcription	Thymus	Thymus
10	chr16:70695400-70702800	Strong transcription	Fetal Brain Female	brain
11	chr16:70695600-70712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:70695600-70714200	Strong transcription	Placenta	Placenta
13	chr16:70695600-70714400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr16:70695600-70714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:70695600-70714400	Strong transcription	Lung	lung
16	chr16:70695600-70714600	Strong transcription	Liver	Liver
17	chr16:70695800-70702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:70695800-70702600	Strong transcription	HepG2	liver
19	chr16:70695800-70713800	Strong transcription	Fetal Intestine Large	intestine
20	chr16:70695800-70714200	Strong transcription	NHDF-Ad	bronchial
21	chr16:70696000-70702000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:70696000-70702600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr16:70696000-70707000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:70696000-70714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:70696000-70714200	Strong transcription	Fetal Thymus	thymus
26	chr16:70696400-70705000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr16:70696400-70713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:70696400-70714200	Strong transcription	Fetal Intestine Small	intestine
29	chr16:70696600-70702600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:70696600-70713400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:70696600-70714200	Strong transcription	Fetal Lung	lung
32	chr16:70696800-70713600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:70696800-70714200	Strong transcription	Osteobl	bone
34	chr16:70697000-70702600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:70697000-70704600	Strong transcription	Colon Smooth Muscle	Colon
36	chr16:70697200-70702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:70697200-70702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:70697200-70709800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:70697200-70709800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:70697200-70713400	Strong transcription	Adipose Nuclei	Adipose
41	chr16:70697400-70702400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr16:70697400-70702400	Weak transcription	Fetal Heart	heart
43	chr16:70697400-70706000	Strong transcription	Brain Anterior Caudate	brain
44	chr16:70697400-70713400	Strong transcription	A549	lung
45	chr16:70697600-70709800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr16:70697600-70713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:70697600-70713600	Strong transcription	Fetal Stomach	stomach
48	chr16:70697600-70713600	Strong transcription	Ovary	ovary
49	chr16:70697600-70713800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:70697600-70714200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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