Variant report

Variant	rs9319585
Chromosome Location	chr16:30549023-30549024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30548814-30549109	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
2	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
3	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
4	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
5	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF747	TF binding region
ENSG00000261459	TF binding region
ENSG00000197162	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34837898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741652	1.00[AMR][1000 genomes]
rs7205820	1.00[AMR][1000 genomes]
rs8051383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058823	1.00[AMR][1000 genomes]

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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking 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	31 gene(s)	inside rSNPs	n/a
5	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
6	nsv977958	chr16:30547064-30550984	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30547400-30550600	Weak transcription	Right Ventricle	heart
2	chr16:30547400-30552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:30547400-30552600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:30547400-30552600	Weak transcription	NH-A	brain
5	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
7	chr16:30547600-30550200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:30547600-30550400	Weak transcription	Left Ventricle	heart
9	chr16:30547600-30550600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:30547600-30550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:30547600-30550600	Weak transcription	Gastric	stomach
12	chr16:30547600-30550600	Weak transcription	Pancreas	Pancrea
13	chr16:30547600-30550600	Weak transcription	Right Atrium	heart
14	chr16:30547600-30550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:30547600-30550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:30547600-30551000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:30547600-30551800	Weak transcription	Brain Germinal Matrix	brain
18	chr16:30547600-30552200	Weak transcription	Brain Substantia Nigra	brain
19	chr16:30547600-30552400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:30547600-30552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:30547600-30552400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30547600-30552400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:30547600-30552400	Weak transcription	Colonic Mucosa	Colon
24	chr16:30547600-30552400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:30547600-30552400	Weak transcription	HUVEC	blood vessel
26	chr16:30547600-30552600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:30547600-30552600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:30547600-30552800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr16:30547600-30552800	Weak transcription	Adipose Nuclei	Adipose
30	chr16:30547600-30552800	Weak transcription	HSMM	muscle
31	chr16:30547600-30553000	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:30547600-30553000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:30547600-30553400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:30547600-30553400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:30547600-30553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:30547600-30560000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:30547600-30560400	Weak transcription	NHEK	skin
38	chr16:30547600-30562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:30547600-30562600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:30547600-30562600	Weak transcription	Placenta	Placenta
41	chr16:30547600-30564000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:30547600-30564200	Weak transcription	Esophagus	oesophagus
43	chr16:30547600-30564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:30547600-30564400	Weak transcription	Lung	lung
45	chr16:30547600-30564400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:30547600-30564400	Weak transcription	Spleen	Spleen
47	chr16:30547800-30549200	Enhancers	Dnd41	blood
48	chr16:30547800-30550200	Weak transcription	Fetal Heart	heart
49	chr16:30547800-30550600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:30547800-30550600	Weak transcription	Duodenum Mucosa	Duodenum

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