Variant report

Variant	rs61747638
Chromosome Location	chr16:70834756-70834757
allele	A/G
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	chr16:70834665..70835214-chr3:156878115..156878623,2	Hela-S3	cervix:
2	chr16:70834449..70835071-chr6:30584492..30585107,2	Hela-S3	cervix:
3	chr16:70832610..70835420-chr16:70895193..70897574,2	MCF-7	breast:
4	chr15:44084166..44084992-chr16:70834555..70835194,2	Hela-S3	cervix:
5	chr16:70816811..70818321-chr16:70832998..70834793,2	K562	blood:
6	chr16:70834603..70835330-chr3:47554235..47555142,2	Hela-S3	cervix:
7	chr1:153940232..153940968-chr16:70834699..70835404,2	Hela-S3	cervix:
8	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:
9	chr12:7079440..7079988-chr16:70834575..70835489,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000140264	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000157423	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000215021	Chromatin interaction
ENSG00000163660	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11862431	0.83[AFR][1000 genomes]
rs11865430	0.83[AFR][1000 genomes]
rs16970543	0.81[AFR][1000 genomes]
rs16970545	0.83[AFR][1000 genomes]
rs60817340	0.83[AFR][1000 genomes]
rs7185218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199602	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70833600-70835200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:70833600-70835400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr16:70833600-70835400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr16:70833600-70835600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr16:70833600-70835600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70833800-70834800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:70833800-70834800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr16:70833800-70835400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:70833800-70835400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr16:70833800-70835400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr16:70833800-70835400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:70834000-70834800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr16:70834000-70834800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr16:70834000-70834800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr16:70834000-70834800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr16:70834000-70834800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:70834000-70834800	Flanking Active TSS	Liver	Liver
18	chr16:70834000-70834800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:70834000-70834800	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr16:70834000-70835000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr16:70834000-70835400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr16:70834000-70835400	Active TSS	Fetal Intestine Large	intestine
23	chr16:70834000-70835400	Active TSS	Fetal Intestine Small	intestine
24	chr16:70834000-70835400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:70834200-70834800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:70834200-70834800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr16:70834200-70834800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr16:70834200-70834800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr16:70834200-70834800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:70834200-70834800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr16:70834200-70834800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr16:70834200-70834800	Flanking Active TSS	Placenta	Placenta
33	chr16:70834200-70834800	Flanking Active TSS	Ovary	ovary
34	chr16:70834200-70834800	Flanking Active TSS	Pancreas	Pancrea
35	chr16:70834200-70835000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:70834200-70835000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:70834200-70835200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:70834200-70835400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70834200-70835400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr16:70834200-70835400	Active TSS	Psoas Muscle	Psoas
41	chr16:70834200-70835400	Active TSS	A549	lung
42	chr16:70834200-70835600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr16:70834200-70835600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:70834400-70834800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr16:70834400-70835000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:70834400-70835000	Active TSS	Small Intestine	intestine
47	chr16:70834400-70835200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr16:70834400-70835200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr16:70834400-70835200	Active TSS	GM12878-XiMat	blood
50	chr16:70834400-70835200	Bivalent/Poised TSS	HepG2	liver

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