Variant report

Variant	rs74017517
Chromosome Location	chr16:31727487-31727488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31727315-31727844	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31725808-31727789	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:31726841-31728095	K562	blood:	n/a	n/a
4	POLR2A	chr16:31727091-31727840	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:31726624-31728128	GM12892	blood:	n/a	n/a
6	POLR2A	chr16:31726930-31727879	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31726696-31727976	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:31726900-31727692	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:31726782-31728080	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:31725625-31727974	GM12891	blood:	n/a	n/a
11	POLR2A	chr16:31726704-31727932	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:31726923-31727635	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31726901-31727990	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:31727365-31727644	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:31727443-31727812	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr16:31727003-31727939	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:31726926-31727796	K562	blood:	n/a	n/a
18	POLR2A	chr16:31727450-31727853	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:31718943-31727784	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:31724037-31728091	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:31726772-31728036	GM12892	blood:	n/a	n/a
22	POLR2A	chr16:31727389-31727705	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:31726958-31727895	K562	blood:	n/a	n/a
24	POLR2A	chr16:31726912-31727854	GM12892	blood:	n/a	n/a
25	POLR2A	chr16:31727324-31728035	K562	blood:	n/a	n/a
26	POLR2A	chr16:31718974-31728173	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:31727034-31728054	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:31726919-31727868	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr16:31721769-31727677	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:31727432-31727821	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31468140..31471133-chr16:31724477..31727489,3	K562	blood:
2	chr16:31487920..31490610-chr16:31726146..31728854,2	K562	blood:
3	chr16:31726169..31729117-chr16:31873731..31876425,2	MCF-7	breast:
4	chr16:31516310..31522725-chr16:31722480..31728998,9	MCF-7	breast:
5	chr16:31517279..31520874-chr16:31722197..31727504,6	MCF-7	breast:
6	chr16:31486548..31488311-chr16:31727435..31729249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261731	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000261284	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	1.00[AMR][1000 genomes]
rs55801950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56007329	1.00[AMR][1000 genomes]
rs56279146	1.00[AMR][1000 genomes]
rs58461706	1.00[AMR][1000 genomes]
rs61467517	1.00[AMR][1000 genomes]
rs6565283	1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	1.00[AMR][1000 genomes]
rs74017511	1.00[AMR][1000 genomes]
rs74017519	1.00[AMR][1000 genomes]
rs74017527	1.00[AMR][1000 genomes]
rs74017528	1.00[AMR][1000 genomes]
rs74017533	1.00[AMR][1000 genomes]
rs74017534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8047836	1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050055	1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	1.00[AMR][1000 genomes]
rs8050437	1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928474	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31725400-31742000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31725600-31727800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:31725600-31735800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:31725800-31727600	Enhancers	Fetal Heart	heart
5	chr16:31725800-31753400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:31726000-31727600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr16:31726000-31727800	ZNF genes & repeats	A549	lung
8	chr16:31726000-31742400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:31726000-31747400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:31726200-31727800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31726200-31727800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:31726200-31727800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:31726200-31730200	Weak transcription	Brain Anterior Caudate	brain
14	chr16:31726200-31730600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:31726200-31734200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:31726200-31736600	Weak transcription	Aorta	Aorta
17	chr16:31726200-31736800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:31726200-31742600	Weak transcription	Ovary	ovary
19	chr16:31726200-31745600	Weak transcription	Colonic Mucosa	Colon
20	chr16:31726400-31727800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr16:31726400-31727800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:31726400-31727800	Strong transcription	Liver	Liver
23	chr16:31726400-31727800	Genic enhancers	HepG2	liver
24	chr16:31726400-31727800	Strong transcription	NHLF	lung
25	chr16:31726400-31728000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:31726400-31728000	Genic enhancers	Right Ventricle	heart
27	chr16:31726400-31730000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr16:31726400-31730000	Weak transcription	Psoas Muscle	Psoas
29	chr16:31726400-31736000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:31726400-31736600	Weak transcription	Small Intestine	intestine
31	chr16:31726400-31750000	Weak transcription	HUVEC	blood vessel
32	chr16:31726400-31750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:31726600-31727600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:31726600-31727600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:31726600-31727600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr16:31726600-31727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:31726600-31728000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:31726600-31728000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:31726600-31729800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr16:31726600-31730000	Weak transcription	Brain Substantia Nigra	brain
41	chr16:31726600-31730000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:31726600-31730600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:31726600-31731200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:31726600-31734400	Weak transcription	Fetal Kidney	kidney
45	chr16:31726600-31734600	Weak transcription	Fetal Brain Male	brain
46	chr16:31726600-31734800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:31726600-31734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:31726600-31736000	Weak transcription	Placenta	Placenta
49	chr16:31726600-31736200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:31726600-31740000	Weak transcription	NHDF-Ad	bronchial

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