Variant report

Variant	rs59392615
Chromosome Location	chr17:45401792-45401793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:215)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:215 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr17:45400936-45401794	H1-hESC	embryonic stem cell:	n/a	chr17:45401272-45401283
2	POLR2A	chr17:45401001-45402489	GM12891	blood:	n/a	n/a
3	CREB1	chr17:45400695-45401811	HepG2	liver:	n/a	n/a
4	MAX	chr17:45400728-45402386	A549	lung:	n/a	n/a
5	PAX5	chr17:45401788-45402532	GM12878	blood:	n/a	chr17:45402110-45402129
6	JUND	chr17:45400812-45401795	A549	lung:	n/a	n/a
7	GTF2F1	chr17:45401016-45401862	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:45400836-45402132	IMR90	lung:	n/a	n/a
9	ELF1	chr17:45400794-45401880	GM12878	blood:	n/a	n/a
10	MAZ	chr17:45400985-45401901	GM12878	blood:	n/a	n/a
11	MAX	chr17:45400621-45401904	HepG2	liver:	n/a	n/a
12	SETDB1	chr17:45400772-45401848	K562	blood:	n/a	n/a
13	RUNX3	chr17:45400741-45402563	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:45400792-45401911	A549	lung:	n/a	n/a
15	MAX	chr17:45400614-45402098	H1-hESC	embryonic stem cell:	n/a	n/a
16	PBX3	chr17:45400790-45402129	A549	lung:	n/a	n/a
17	POLR2A	chr17:45400465-45402245	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr17:45400858-45402457	GM12892	blood:	n/a	n/a
19	NFIC	chr17:45400672-45402561	GM12878	blood:	n/a	n/a
20	USF1	chr17:45400615-45401849	ECC-1	luminal epithelium:	n/a	chr17:45401293-45401304
21	POLR2A	chr17:45400857-45401914	A549	lung:	n/a	n/a
22	CTCF	chr17:45401760-45401910	AG10803	skin:	n/a	n/a
23	MXI1	chr17:45400566-45402311	GM12878	blood:	n/a	n/a
24	MAX	chr17:45400671-45402245	ECC-1	luminal epithelium:	n/a	n/a
25	YY1	chr17:45400688-45402455	GM12878	blood:	n/a	n/a
26	YY1	chr17:45401528-45401796	K562	blood:	n/a	n/a
27	SIX5	chr17:45400717-45402397	A549	lung:	n/a	n/a
28	WRNIP1	chr17:45401517-45402277	GM12878	blood:	n/a	n/a
29	TEAD4	chr17:45400605-45401894	K562	blood:	n/a	n/a
30	POLR2A	chr17:45400739-45402032	PANC-1	pancreas:	n/a	n/a
31	TAF1	chr17:45400917-45402426	GM12878	blood:	n/a	n/a
32	SPI1	chr17:45401467-45401881	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:45400783-45402166	PANC-1	pancreas:	n/a	n/a
34	HCFC1	chr17:45400496-45402276	Hela-S3	cervix:	n/a	n/a
35	MYBL2	chr17:45400691-45401865	HepG2	liver:	n/a	n/a
36	SIN3A	chr17:45400737-45401951	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr17:45401032-45402114	GM12891	blood:	n/a	n/a
38	POLR2A	chr17:45400795-45401963	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr17:45400905-45402395	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:45400785-45401905	Hela-S3	cervix:	n/a	n/a
41	NR2F2	chr17:45400747-45401914	MCF-7	breast:	n/a	n/a
42	POLR2A	chr17:45400691-45402532	GM12892	blood:	n/a	n/a
43	POLR2A	chr17:45400717-45402227	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr17:45400865-45402526	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:45400764-45402929	GM12891	blood:	n/a	n/a
46	POLR2A	chr17:45400885-45401890	A549	lung:	n/a	n/a
47	POLR2A	chr17:45400900-45402381	GM12878	blood:	n/a	n/a
48	STAT5A	chr17:45401242-45402438	GM12878	blood:	n/a	chr17:45402239-45402250 chr17:45401546-45401554
49	POLR2A	chr17:45400620-45402571	GM12878	blood:	n/a	n/a
50	CHD1	chr17:45400811-45402377	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45399600..45403116-chr17:45404916..45409576,7	K562	blood:
2	chr17:45401064..45401883-chr20:30194485..30195180,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-2	chr17:45401616-45402367	ENSG00000247683

No data

Variant related genes	Relation type
EFCAB13	TF binding region
ENSG00000263293	TF binding region
ENSG00000178852	Chromatin interaction
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs56721370	1.00[AFR][1000 genomes]
rs57044127	1.00[AFR][1000 genomes]
rs57172453	1.00[AFR][1000 genomes]
rs57180192	1.00[AFR][1000 genomes]
rs57216860	1.00[AFR][1000 genomes]
rs60348832	1.00[AFR][1000 genomes]
rs60444690	1.00[AFR][1000 genomes]
rs61020525	1.00[AMR][1000 genomes]
rs61274872	0.90[AFR][1000 genomes]
rs61597232	1.00[AMR][1000 genomes]
rs73320495	0.90[AFR][1000 genomes]
rs73320498	0.90[AFR][1000 genomes]
rs73322311	0.90[AFR][1000 genomes]
rs73322315	0.90[AFR][1000 genomes]
rs73322322	0.90[AFR][1000 genomes]
rs73322325	1.00[AFR][1000 genomes]
rs73322328	0.91[AFR][1000 genomes]
rs73322329	1.00[AFR][1000 genomes]
rs73322332	1.00[AFR][1000 genomes]
rs73322392	1.00[AFR][1000 genomes]
rs73322393	1.00[AFR][1000 genomes]
rs73322397	1.00[AFR][1000 genomes]
rs73322398	1.00[AFR][1000 genomes]
rs73322400	1.00[AFR][1000 genomes]
rs73324405	1.00[AFR][1000 genomes]
rs73324407	1.00[AFR][1000 genomes]
rs73324416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324432	1.00[AMR][1000 genomes]
rs73324439	1.00[AMR][1000 genomes]
rs73324440	1.00[AMR][1000 genomes]
rs73324443	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45400000-45402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45400400-45402400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:45400400-45402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:45400400-45402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr17:45400400-45402400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr17:45400400-45402400	Active TSS	NHLF	lung
7	chr17:45400400-45402600	Active TSS	A549	lung
8	chr17:45400600-45401800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:45400600-45402000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:45400600-45402000	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr17:45400600-45402000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:45400600-45402000	Active TSS	Brain Angular Gyrus	brain
13	chr17:45400600-45402000	Active TSS	Pancreas	Pancrea
14	chr17:45400600-45402000	Active TSS	Stomach Mucosa	stomach
15	chr17:45400600-45402000	Flanking Active TSS	NH-A	brain
16	chr17:45400600-45402200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:45400600-45402200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr17:45400600-45402200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:45400600-45402200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr17:45400600-45402200	Active TSS	Brain Cingulate Gyrus	brain
21	chr17:45400600-45402200	Active TSS	Brain Substantia Nigra	brain
22	chr17:45400600-45402200	Active TSS	Colon Smooth Muscle	Colon
23	chr17:45400600-45402200	Active TSS	Fetal Kidney	kidney
24	chr17:45400600-45402200	Active TSS	Left Ventricle	heart
25	chr17:45400600-45402200	Active TSS	Psoas Muscle	Psoas
26	chr17:45400600-45402200	Active TSS	Right Ventricle	heart
27	chr17:45400600-45402400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:45400600-45402400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr17:45400600-45402400	Active TSS	Primary T cells from cord blood	blood
30	chr17:45400600-45402400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr17:45400600-45402400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr17:45400600-45402400	Active TSS	Brain Anterior Caudate	brain
33	chr17:45400600-45402400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr17:45400600-45402400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:45400600-45402400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr17:45400600-45402400	Active TSS	Fetal Intestine Large	intestine
37	chr17:45400600-45402400	Active TSS	Fetal Intestine Small	intestine
38	chr17:45400600-45402400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr17:45400600-45402400	Active TSS	Fetal Muscle Trunk	muscle
40	chr17:45400600-45402400	Active TSS	Ovary	ovary
41	chr17:45400600-45402400	Active TSS	Stomach Smooth Muscle	stomach
42	chr17:45400600-45402400	Active TSS	HSMM	muscle
43	chr17:45400600-45402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:45400600-45402800	Active TSS	Colonic Mucosa	Colon
45	chr17:45400600-45402800	Active TSS	Fetal Lung	lung
46	chr17:45400800-45401800	Active TSS	Liver	Liver
47	chr17:45400800-45401800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr17:45400800-45402000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:45400800-45402000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:45400800-45402000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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