Variant report

Variant	rs528392934
Chromosome Location	chr16:70696936-70696937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
2	chr16:70696838..70699602-chr16:70778783..70781663,2	MCF-7	breast:
3	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
4	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
5	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
6	chr16:70695734..70697501-chr16:70719641..70721197,2	MCF-7	breast:
7	chr16:70696392..70698736-chr16:70707157..70709688,2	K562	blood:
8	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:
9	chr16:70557404..70559020-chr16:70695143..70697780,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv906881	chr16:70688073-70700214	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	esv3341219	chr16:70696476-70699324	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
12	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
13	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
14	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:70688400-70697400	Weak transcription	Dnd41	blood
17	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
18	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
20	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
21	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
22	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
23	chr16:70688600-70697000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:70688600-70697000	Weak transcription	Pancreas	Pancrea
25	chr16:70688600-70697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:70688600-70697400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:70688600-70697400	Weak transcription	A549	lung
28	chr16:70688600-70697400	Weak transcription	NHEK	skin
29	chr16:70688600-70698400	Weak transcription	HMEC	breast
30	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
31	chr16:70688600-70702400	Weak transcription	K562	blood
32	chr16:70691200-70697200	Weak transcription	Gastric	stomach
33	chr16:70693000-70698400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:70693400-70699200	Weak transcription	Small Intestine	intestine
35	chr16:70693400-70700400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:70693600-70697600	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr16:70693800-70697200	Weak transcription	Left Ventricle	heart
38	chr16:70694400-70697600	Genic enhancers	Fetal Stomach	stomach
39	chr16:70694400-70697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:70694600-70699200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr16:70694800-70697200	Weak transcription	Primary T cells from cord blood	blood
43	chr16:70694800-70697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:70695200-70697200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:70695200-70700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:70695400-70698000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr16:70695400-70698600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr16:70695400-70698800	Genic enhancers	NHLF	lung
49	chr16:70695400-70702600	Strong transcription	Brain Germinal Matrix	brain
50	chr16:70695400-70702600	Strong transcription	Thymus	Thymus

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