Variant report

Variant	rs17020344
Chromosome Location	chr2:37459208-37459209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:198)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:198 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:37456226-37460228	SK-N-SH	brain:	n/a	n/a
2	CCNT2	chr2:37458254-37459216	K562	blood:	n/a	n/a
3	NR2F2	chr2:37458349-37459298	MCF-7	breast:	n/a	n/a
4	FOXM1	chr2:37458131-37459402	GM12878	blood:	n/a	n/a
5	GATA2	chr2:37457660-37459567	SH-SY5Y	brain:	n/a	n/a
6	BHLHE40	chr2:37458151-37459208	K562	blood:	n/a	chr2:37458534-37458550
7	STAT3	chr2:37459178-37459338	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:37458193-37459627	Raji	blood:	n/a	n/a
9	MAX	chr2:37457632-37459963	HepG2	liver:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
10	MAX	chr2:37457778-37459361	HCT-116	colon:	n/a	n/a
11	GABPA	chr2:37458029-37459265	A549	lung:	n/a	n/a
12	ETS1	chr2:37458388-37459211	K562	blood:	n/a	chr2:37458473-37458483
13	CHD1	chr2:37458226-37459712	GM12878	blood:	n/a	n/a
14	MYC	chr2:37457449-37459281	K562	blood:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
15	ELF1	chr2:37458219-37459301	MCF-7	breast:	n/a	chr2:37458535-37458547 chr2:37458472-37458481
16	NR2F2	chr2:37458594-37459434	K562	blood:	n/a	n/a
17	POLR2A	chr2:37457710-37459610	Hela-S3	cervix:	n/a	n/a
18	YY1	chr2:37458224-37459315	HepG2	liver:	n/a	chr2:37458535-37458549
19	GABPA	chr2:37458080-37459313	HL-60	blood:	n/a	n/a
20	POLR2A	chr2:37458251-37459476	K562	blood:	n/a	n/a
21	MAX	chr2:37458174-37459309	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr2:37458356-37459216	ProgFib	skin:	n/a	n/a
23	POLR2A	chr2:37458056-37459381	GM12878	blood:	n/a	n/a
24	SIN3A	chr2:37457701-37460089	H1-hESC	embryonic stem cell:	n/a	chr2:37458253-37458267
25	REST	chr2:37458468-37459305	H1-neurons	neurons:	n/a	n/a
26	ARID3A	chr2:37458555-37459209	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:37458228-37459238	K562	blood:	n/a	n/a
28	MBD4	chr2:37457793-37459480	HepG2	liver:	n/a	n/a
29	RUNX3	chr2:37458109-37459448	GM12878	blood:	n/a	chr2:37459128-37459143
30	MAX	chr2:37458043-37459418	K562	blood:	n/a	n/a
31	ETS1	chr2:37458347-37459227	A549	lung:	n/a	chr2:37458473-37458483
32	POLR2A	chr2:37458302-37459375	GM12892	blood:	n/a	n/a
33	MYBL2	chr2:37458144-37459228	HepG2	liver:	n/a	n/a
34	MYC	chr2:37457567-37459456	K562	blood:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
35	E2F4	chr2:37458270-37459503	K562	blood:	n/a	chr2:37458468-37458483
36	TCF12	chr2:37458352-37459229	ECC-1	luminal epithelium:	n/a	chr2:37458378-37458387
37	TAF1	chr2:37458325-37459219	HepG2	liver:	n/a	n/a
38	GABPA	chr2:37457918-37459351	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr2:37458249-37459216	U87	brain:	n/a	n/a
40	YY1	chr2:37457994-37459218	SK-N-SH	brain:	n/a	chr2:37458535-37458549
41	POLR2A	chr2:37458109-37459668	Hela-S3	cervix:	n/a	n/a
42	MTA3	chr2:37458023-37459713	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:37458334-37459578	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr2:37458473-37459307	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:37458347-37459227	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:37458162-37459592	HepG2	liver:	n/a	n/a
47	CREB1	chr2:37458165-37459839	HepG2	liver:	n/a	n/a
48	PAX5	chr2:37458325-37459362	GM12878	blood:	n/a	n/a
49	UBTF	chr2:37458222-37459517	K562	blood:	n/a	n/a
50	GATA3	chr2:37458111-37459263	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37459194-37459244	HIPEpiC	eye:	n/a
2	chr2:37459194-37459244	MCF-7	breast:	n/a
3	chr2:37459194-37459244	NHBE	bronchial:	n/a
4	chr2:37459194-37459244	SAEC	small airway:	n/a
5	chr2:37459194-37459244	NB4	blood:	n/a
6	chr2:37459194-37459244	MCF10A-Er-Src	breast:	n/a
7	chr2:37459194-37459244	SK-N-MC	brain:	n/a
8	chr2:37459194-37459244	SK-N-SH	brain:	n/a
9	chr2:37459194-37459244	T-47D	breast:	n/a
10	chr2:37459194-37459244	HCT-116	colon:	n/a
11	chr2:37459194-37459244	HL-60	blood:	n/a
12	chr2:37459194-37459244	AG04449	skin:	fetal
13	chr2:37459194-37459244	Hela-S3	cervix:	n/a
14	chr2:37459194-37459244	HCPEpiC	choroid plexus:	n/a
15	chr2:37459194-37459244	PrEC	prostate:	n/a
16	chr2:37459194-37459244	H1-hESC	embryonic stem cell:	embryo
17	chr2:37459194-37459244	NT2-D1	testis:	n/a
18	chr2:37459194-37459244	GM12878	blood:	n/a
19	chr2:37459194-37459244	LNCaP	prostate:	n/a
20	chr2:37459194-37459244	SK-N-SH_RA	brain:	n/a
21	chr2:37459194-37459244	CMK	blood:	n/a
22	chr2:37459194-37459244	HAEpiC	amniotic membrane:	n/a
23	chr2:37459194-37459244	U87	brain:	n/a
24	chr2:37459194-37459244	HUVEC	blood vessel:	n/a
25	chr2:37459194-37459244	ProgFib	skin:	n/a
26	chr2:37459194-37459244	K562	blood:	n/a
27	chr2:37459194-37459244	PFSK-1	brain:	n/a
28	chr2:37459194-37459244	HMEC	breast:	n/a
29	chr2:37459194-37459244	NHDF-neo	bronchial:	n/a
30	chr2:37459194-37459244	A549	lung:	n/a
31	chr2:37459194-37459244	BE2_C	brain:	n/a
32	chr2:37459194-37459244	GM06990	blood:	n/a
33	chr2:37459194-37459244	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:37459194-37459244	AG10803	skin:	n/a
35	chr2:37459194-37459244	HEEpiC	esophagus:	n/a
36	chr2:37459194-37459244	Jurkat	blood:	n/a
37	chr2:37459194-37459244	SKMC	muscle:	n/a
38	chr2:37459194-37459244	HepG2	liver:	n/a
39	chr2:37459194-37459244	NH-A	brain:	n/a
40	chr2:37459194-37459244	GM12891	blood:	n/a
41	chr2:37459194-37459244	AoSMC	blood vessel:	n/a
42	chr2:37459194-37459244	AG09319	gingival:	n/a
43	chr2:37459194-37459244	PANC-1	pancreas:	n/a
44	chr2:37459194-37459244	HRCEpiC	kidney:	n/a
45	chr2:37459194-37459244	RPTEC	kidney:	n/a
46	chr2:37459194-37459244	Caco-2	colon:	n/a
47	chr2:37459194-37459244	HEK293	kidney:	embryo
48	chr2:37459194-37459244	HCM	heart:	n/a
49	chr2:37459194-37459244	ECC-1	luminal epithelium:	n/a
50	chr2:37459194-37459244	HCF	heart:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
2	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:
3	chr2:37458143..37460778-chr2:37473170..37474857,2	MCF-7	breast:
4	chr2:37457130..37459625-chr2:38301766..38304160,2	MCF-7	breast:
5	chr2:37438602..37441837-chr2:37456700..37460160,3	K562	blood:
6	chr17:7387273..7388249-chr2:37458336..37459241,2	HCT-116	colon:
7	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:
8	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
9	chr2:37457826..37459742-chr2:38976926..38979723,2	K562	blood:
10	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
11	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
12	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
13	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
14	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:
15	chr2:37458722..37459222-chr4:492443..492973,2	NB4	blood:

No data

Variant related genes	Relation type
CEBPZ	TF binding region
CEBPZ	CpG island
ENSG00000055332	Chromatin interaction
ENSG00000232973	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000182903	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000138061	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000138068	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10201396	0.82[EUR][1000 genomes]
rs10204434	0.82[EUR][1000 genomes]
rs10206380	0.86[ASN][1000 genomes]
rs11124570	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11124573	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1160516	0.82[EUR][1000 genomes]
rs12476195	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13421912	0.85[EUR][1000 genomes]
rs13429526	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17020358	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2041838	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2041839	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2075215	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2075216	0.91[ASN][1000 genomes]
rs2216114	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2287091	0.82[EUR][1000 genomes]
rs2300895	0.82[AMR][1000 genomes]
rs2300896	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2372887	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28524149	0.82[EUR][1000 genomes]
rs3213746	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3770761	0.85[EUR][1000 genomes]
rs3821144	0.85[EUR][1000 genomes]
rs4670682	0.82[EUR][1000 genomes]
rs4670684	0.82[EUR][1000 genomes]
rs4670685	0.82[EUR][1000 genomes]
rs59559471	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59612622	0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17020344	PRKD3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37456200-37459600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:37456600-37460400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37456800-37459400	Active TSS	GM12878-XiMat	blood
4	chr2:37456800-37460600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:37457000-37459400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:37457000-37459400	Active TSS	Right Ventricle	heart
7	chr2:37457000-37459600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:37457000-37459600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:37457000-37459600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:37457000-37459800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:37457000-37459800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:37457000-37460200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:37457000-37461000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:37457200-37459400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:37457200-37459400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:37457200-37459600	Active TSS	Fetal Intestine Large	intestine
17	chr2:37457200-37459600	Active TSS	K562	blood
18	chr2:37457200-37459800	Active TSS	Psoas Muscle	Psoas
19	chr2:37457200-37459800	Active TSS	NHDF-Ad	bronchial
20	chr2:37457200-37460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:37457200-37461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:37457400-37459400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:37457400-37459400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:37457400-37459400	Active TSS	Right Atrium	heart
25	chr2:37457400-37459400	Active TSS	Hela-S3	cervix
26	chr2:37457400-37459600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:37457400-37459600	Active TSS	HMEC	breast
28	chr2:37457400-37459800	Active TSS	NHLF	lung
29	chr2:37457400-37460000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:37457600-37459400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:37457600-37459400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:37457600-37459400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:37457600-37459600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:37457600-37459600	Active TSS	Aorta	Aorta
35	chr2:37457600-37459600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:37457600-37459600	Active TSS	Ovary	ovary
37	chr2:37457600-37459600	Active TSS	A549	lung
38	chr2:37457600-37459800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:37457600-37459800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:37457600-37459800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:37457600-37460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:37457800-37459400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr2:37457800-37459400	Active TSS	Colon Smooth Muscle	Colon
44	chr2:37457800-37459400	Active TSS	Esophagus	oesophagus
45	chr2:37457800-37459400	Active TSS	Fetal Heart	heart
46	chr2:37457800-37459400	Active TSS	Fetal Lung	lung
47	chr2:37457800-37459400	Active TSS	NHEK	skin
48	chr2:37457800-37459600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:37457800-37459600	Active TSS	Fetal Kidney	kidney
50	chr2:37457800-37459600	Bivalent/Poised TSS	HepG2	liver

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