Variant report

Variant	rs10451309
Chromosome Location	chr17:34110710-34110711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr17:34110348-34110787	A549	lung:	n/a	chr17:34110395-34110402
2	ZKSCAN1	chr17:34110469-34110765	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr17:34110351-34110974	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr17:34110425-34110893	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:34110433-34110899	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:34110360-34111024	Hela-S3	cervix:	n/a	n/a
7	MYC	chr17:34110303-34111048	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr17:34110524-34110822	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr17:34110442-34111158	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr17:34110543-34110824	MCF10A-Er-Src	breast:	n/a	chr17:34110722-34110730
11	POLR2A	chr17:34110395-34110869	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:34110440-34110886	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr17:34110284-34111055	Hela-S3	cervix:	n/a	n/a
14	TBP	chr17:34110240-34110760	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr17:34110362-34111007	Hela-S3	cervix:	n/a	n/a
16	MAX	chr17:34110356-34111149	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr17:34110412-34110859	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr17:34110411-34111067	Hela-S3	cervix:	n/a	n/a
19	USF2	chr17:34110345-34111053	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr17:34110274-34111093	Hela-S3	cervix:	n/a	n/a
21	EP300	chr17:34110247-34110764	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:34110522-34110746	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr17:34110436-34110859	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr17:34110393-34111024	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr17:34110270-34111167	Hela-S3	cervix:	n/a	n/a
26	MYC	chr17:34110499-34111031	MCF10A-Er-Src	breast:	n/a	n/a
27	GTF2F1	chr17:34110356-34111008	Hela-S3	cervix:	n/a	n/a
28	MYC	chr17:34110428-34111072	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:34107495..34110097-chr17:34110159..34111729,2	MCF-7	breast:
2	chr17:34107986..34110946-chr17:34114569..34116755,2	MCF-7	breast:
3	chr17:34110343..34111997-chr17:34135986..34137839,2	K562	blood:
4	chr17:34101546..34103557-chr17:34109356..34111620,2	MCF-7	breast:
5	chr17:34108042..34111149-chr17:34136404..34138541,3	MCF-7	breast:

No data

Variant related genes	Relation type
MMP28	TF binding region
ENSG00000172660	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1065341	1.00[TSI][hapmap]
rs16963927	0.89[GIH][hapmap];1.00[TSI][hapmap]
rs16971600	0.89[GIH][hapmap];1.00[TSI][hapmap]
rs16971624	0.86[GIH][hapmap];1.00[TSI][hapmap]
rs2242597	0.85[JPT][hapmap]
rs2280783	0.92[JPT][hapmap]
rs2280786	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs2280788	0.83[JPT][hapmap]
rs4251700	0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4251704	0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251710	0.82[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251739	0.84[ASN][1000 genomes]
rs4251744	0.80[EUR][1000 genomes]
rs4251776	0.89[GIH][hapmap];1.00[TSI][hapmap]
rs55792948	0.90[ASN][1000 genomes]
rs55915639	0.81[ASN][1000 genomes]
rs56170514	0.90[ASN][1000 genomes]
rs56262662	0.90[ASN][1000 genomes]
rs56347933	0.89[ASN][1000 genomes]
rs56382694	0.92[ASN][1000 genomes]
rs60040900	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7209512	0.80[EUR][1000 genomes]
rs8073456	0.86[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs9896368	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs9901469	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907320	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914929	0.85[MEX][hapmap];0.87[TSI][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10451309	CCL3	cis	lymphoblastoid	seeQTL
rs10451309	CCL5	cis	lymphoblastoid	seeQTL
rs10451309	RDM1	cis	lymphoblastoid	seeQTL
rs10451309	GAS2L2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34092400-34114200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr17:34102600-34113400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:34104600-34111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:34106000-34121400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:34106200-34111600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:34106400-34111400	Weak transcription	Gastric	stomach
7	chr17:34106400-34115800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:34107000-34114000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:34108000-34112200	Enhancers	Fetal Intestine Small	intestine
10	chr17:34108000-34116400	Enhancers	Stomach Mucosa	stomach
11	chr17:34109200-34111000	Weak transcription	Colonic Mucosa	Colon
12	chr17:34110000-34111600	Enhancers	Liver	Liver
13	chr17:34110000-34112200	Enhancers	Adipose Nuclei	Adipose
14	chr17:34110200-34110800	Enhancers	Brain Anterior Caudate	brain
15	chr17:34110200-34111000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr17:34110200-34111000	Flanking Active TSS	A549	lung
17	chr17:34110200-34111000	Flanking Active TSS	Hela-S3	cervix
18	chr17:34110200-34111400	Enhancers	NHEK	skin
19	chr17:34110200-34111600	Enhancers	Fetal Heart	heart
20	chr17:34110200-34111600	Genic enhancers	HMEC	breast
21	chr17:34110200-34112200	Enhancers	Fetal Intestine Large	intestine
22	chr17:34110200-34112400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:34110200-34116800	Enhancers	Colon Smooth Muscle	Colon
24	chr17:34110400-34110800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:34110400-34110800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr17:34110400-34110800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:34110400-34110800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr17:34110400-34110800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr17:34110400-34111000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr17:34110400-34111000	Enhancers	Fetal Brain Male	brain
31	chr17:34110400-34111000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr17:34110400-34111200	Enhancers	Fetal Lung	lung
33	chr17:34110400-34111600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:34110400-34111600	Enhancers	Fetal Muscle Leg	muscle
35	chr17:34110400-34111600	Bivalent Enhancer	HepG2	liver
36	chr17:34110400-34111800	Enhancers	Fetal Brain Female	brain
37	chr17:34110400-34112200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:34110400-34112200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:34110400-34112200	Enhancers	Aorta	Aorta
40	chr17:34110400-34112200	Enhancers	Left Ventricle	heart
41	chr17:34110400-34112200	Enhancers	Pancreas	Pancrea
42	chr17:34110400-34112400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:34110400-34112400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:34110400-34112400	Enhancers	Esophagus	oesophagus
45	chr17:34110400-34112400	Enhancers	Lung	lung
46	chr17:34110400-34112400	Enhancers	Right Atrium	heart
47	chr17:34110400-34112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:34110400-34112600	Enhancers	Rectal Smooth Muscle	rectum
49	chr17:34110400-34116400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr17:34110600-34110800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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