Variant report

Variant	rs17568246
Chromosome Location	chr1:151736456-151736457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr1:151735641-151736457	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:151735343-151736776	HUVEC	blood vessel:	n/a	n/a
3	WRNIP1	chr1:151735849-151736725	GM12878	blood:	n/a	n/a
4	YY1	chr1:151735163-151736566	SK-N-SH	brain:	n/a	chr1:151735947-151735959
5	POLR2A	chr1:151735747-151736642	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:151735356-151736799	K562	blood:	n/a	n/a
7	POLR2A	chr1:151735459-151736573	GM12878	blood:	n/a	n/a
8	JUN	chr1:151735707-151737745	K562	blood:	n/a	n/a
9	REST	chr1:151735052-151736534	H1-neurons	neurons:	n/a	n/a
10	GATA3	chr1:151735354-151736467	MCF-7	breast:	n/a	n/a
11	ELF1	chr1:151735093-151736499	MCF-7	breast:	n/a	n/a
12	TCF12	chr1:151735463-151736532	A549	lung:	n/a	n/a
13	POLR2A	chr1:151735652-151736616	K562	blood:	n/a	n/a
14	MAFK	chr1:151735954-151736524	K562	blood:	n/a	n/a
15	TBP	chr1:151735844-151736647	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr1:151735169-151736643	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:151735433-151736483	PBDE	blood:	n/a	n/a
18	SRF	chr1:151735128-151736698	MCF-7	breast:	n/a	n/a
19	TAF1	chr1:151735527-151736467	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr1:151735508-151736521	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:151735397-151736699	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:151735619-151736801	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:151735698-151736505	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:151735354-151736462	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:151735100-151736643	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr1:151735072-151736868	MCF-7	breast:	n/a	chr1:151735711-151735721
27	SIN3AK20	chr1:151735109-151736677	MCF-7	breast:	n/a	n/a
28	SRF	chr1:151735548-151736465	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:151735367-151736568	PFSK-1	brain:	n/a	n/a
30	TAF1	chr1:151735737-151736477	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:151735473-151736633	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr1:151735431-151736651	MCF10A-Er-Src	breast:	n/a	n/a
33	IRF1	chr1:151735789-151736479	K562	blood:	n/a	n/a
34	PML	chr1:151735543-151736538	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:151735431-151736700	GM12892	blood:	n/a	n/a
36	POLR2A	chr1:151735632-151736476	GM12892	blood:	n/a	n/a
37	MXI1	chr1:151734675-151737205	SK-N-SH	brain:	n/a	n/a
38	SRF	chr1:151735391-151736608	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:151735565-151736555	U87	brain:	n/a	n/a
40	MAZ	chr1:151735166-151736456	IMR90	lung:	n/a	n/a
41	TAF1	chr1:151735380-151736461	MCF-7	breast:	n/a	n/a
42	TBP	chr1:151735507-151736582	K562	blood:	n/a	n/a
43	RCOR1	chr1:151735811-151736482	K562	blood:	n/a	n/a
44	HCFC1	chr1:151734830-151736923	Hela-S3	cervix:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151380793..151382319-chr1:151736014..151737690,2	K562	blood:
2	chr1:151299097..151300902-chr1:151735248..151736836,2	MCF-7	breast:
3	chr1:151254636..151256899-chr1:151735426..151737662,3	MCF-7	breast:
4	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
5	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
6	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
7	chr1:151735081..151737738-chr1:151803314..151806226,2	MCF-7	breast:
8	chr1:151380793..151382979-chr1:151735863..151737514,2	K562	blood:
9	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
10	chr1:151505137..151506886-chr1:151734570..151737122,2	K562	blood:
11	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
12	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
13	chr1:151717511..151721266-chr1:151734435..151738153,6	MCF-7	breast:
14	chr1:151226585..151228583-chr1:151736339..151739285,2	MCF-7	breast:
15	chr1:151225781..151228745-chr1:151734591..151737226,2	K562	blood:
16	chr1:151253841..151255362-chr1:151735599..151737592,2	K562	blood:
17	chr1:151731676..151737592-chr1:151803957..151806544,6	MCF-7	breast:
18	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:

No data

Variant related genes	Relation type
OAZ3	TF binding region
ENSG00000232937	TF binding region
MRPL9	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1054479	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10788809	0.81[ASN][1000 genomes]
rs11204884	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11576810	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585294	0.81[ASN][1000 genomes]
rs11586446	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586946	0.81[ASN][1000 genomes]
rs11588258	1.00[CHB][hapmap]
rs11588634	1.00[CHB][hapmap]
rs1196467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122917	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13376155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489890	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3790514	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811415	0.81[ASN][1000 genomes]
rs4618976	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4845356	0.81[ASN][1000 genomes]
rs4845570	0.81[ASN][1000 genomes]
rs61815078	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659705	0.81[ASN][1000 genomes]
rs6664467	0.84[ASN][1000 genomes]
rs6673002	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6673917	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6681093	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6683364	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6694952	0.81[ASN][1000 genomes]
rs7007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542898	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151734800-151736800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:151735000-151736600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:151735000-151736600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:151735000-151736600	Active TSS	Fetal Kidney	kidney
5	chr1:151735000-151736600	Active TSS	NHDF-Ad	bronchial
6	chr1:151735000-151736800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:151735000-151736800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:151735000-151736800	Active TSS	NHLF	lung
9	chr1:151735000-151737000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:151735200-151736600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:151735200-151736600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:151735200-151736600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:151735200-151736600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:151735200-151736600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:151735200-151736600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:151735200-151736600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151735200-151736600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:151735200-151736600	Active TSS	Fetal Intestine Small	intestine
19	chr1:151735200-151736600	Active TSS	Left Ventricle	heart
20	chr1:151735200-151736600	Active TSS	Lung	lung
21	chr1:151735200-151736600	Active TSS	Ovary	ovary
22	chr1:151735200-151736600	Active TSS	Right Atrium	heart
23	chr1:151735200-151736800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:151735200-151736800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:151735200-151736800	Active TSS	Colonic Mucosa	Colon
26	chr1:151735200-151736800	Active TSS	Fetal Muscle Trunk	muscle
27	chr1:151735200-151736800	Active TSS	Psoas Muscle	Psoas
28	chr1:151735400-151736600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:151735400-151736600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:151735400-151736600	Active TSS	Aorta	Aorta
31	chr1:151735400-151736600	Active TSS	Brain Hippocampus Middle	brain
32	chr1:151735400-151736600	Active TSS	Esophagus	oesophagus
33	chr1:151735400-151736600	Active TSS	Gastric	stomach
34	chr1:151735400-151736800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:151735400-151736800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:151735400-151736800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:151735400-151736800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:151735400-151737000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:151735400-151737000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:151735600-151736600	Active TSS	Brain Germinal Matrix	brain
41	chr1:151735600-151736600	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:151735600-151736800	Active TSS	Pancreas	Pancrea
43	chr1:151736000-151736800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:151736200-151736600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr1:151736200-151736600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr1:151736200-151736600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:151736200-151736600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:151736200-151736600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:151736200-151736600	Flanking Active TSS	Placenta	Placenta
50	chr1:151736200-151736600	Flanking Active TSS	Fetal Thymus	thymus

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