Variant report

Variant	rs7580658
Chromosome Location	chr2:128159261-128159262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128144095..128150105-chr2:128153920..128160111,11	MCF-7	breast:
2	chr2:128145150..128147400-chr2:128159115..128162148,3	K562	blood:
3	chr2:128111305..128113465-chr2:128157702..128159726,2	MCF-7	breast:
4	chr2:128143860..128148648-chr2:128154163..128162464,14	MCF-7	breast:
5	chr2:128154427..128157643-chr2:128157781..128161017,3	K562	blood:
6	chr2:128158177..128161164-chr2:128161262..128165115,3	K562	blood:
7	chr2:128156066..128157658-chr2:128157783..128160601,2	K562	blood:
8	chr2:128143318..128152182-chr2:128154033..128162255,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236682	Chromatin interaction
ENSG00000169967	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10803585	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10928761	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs11886231	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11890187	0.87[ASN][1000 genomes]
rs11901355	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052483	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12463451	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12468304	0.81[EUR][1000 genomes]
rs12476767	0.80[AMR][1000 genomes]
rs12477214	0.89[ASN][1000 genomes]
rs12479003	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12622436	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12989081	0.92[ASN][1000 genomes]
rs12989154	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12991062	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12991768	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13026597	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13026611	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029237	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1566823	0.86[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap]
rs17015199	0.87[ASN][1000 genomes]
rs1799808	0.93[ASW][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1850689	0.92[ASN][1000 genomes]
rs2069924	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2069931	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2090574	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276583	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2896980	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3088374	0.88[CEU][hapmap];0.95[MEX][hapmap]
rs34832797	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35293119	0.92[ASN][1000 genomes]
rs3768866	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4150407	0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs4150441	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4150454	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4150477	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4150495	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4150496	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4233583	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4233584	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4497825	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs4662575	0.81[EUR][1000 genomes]
rs4662578	0.87[ASN][1000 genomes]
rs4662580	0.86[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4662717	0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs4662722	0.81[CEU][hapmap];0.89[ASN][1000 genomes]
rs4662725	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55998967	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59566504	0.84[ASN][1000 genomes]
rs62157549	0.87[ASN][1000 genomes]
rs62157555	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62160261	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710535	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6731176	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs6732279	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754999	0.80[AMR][1000 genomes]
rs6761447	0.87[ASN][1000 genomes]
rs7568261	0.91[ASN][1000 genomes]
rs7587639	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7589451	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs867304	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9636237	0.86[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.87[ASN][1000 genomes]
rs9789510	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Protein C levels	25376901	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7580658	ERCC3	cis	parietal	SCAN
rs7580658	ERCC3	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128146400-128165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:128146600-128162600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:128150400-128165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:128152600-128165800	Weak transcription	Aorta	Aorta
5	chr2:128155000-128160400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:128155400-128160200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:128155800-128164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:128156000-128162200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:128156000-128163800	Enhancers	A549	lung
10	chr2:128156200-128159800	Weak transcription	Spleen	Spleen
11	chr2:128156200-128161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:128156200-128161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:128156200-128162800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:128156200-128163000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:128156200-128163000	Weak transcription	Right Atrium	heart
16	chr2:128156200-128165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:128156400-128161400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:128156400-128161400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:128156400-128164200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:128156800-128162000	Weak transcription	Lung	lung
21	chr2:128156800-128165200	Weak transcription	Pancreas	Pancrea
22	chr2:128157000-128165400	Weak transcription	Psoas Muscle	Psoas
23	chr2:128158200-128159600	Flanking Active TSS	NHEK	skin
24	chr2:128158200-128159800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:128158200-128159800	Enhancers	Placenta	Placenta
26	chr2:128158200-128159800	Enhancers	Fetal Thymus	thymus
27	chr2:128158200-128159800	Enhancers	Small Intestine	intestine
28	chr2:128158200-128159800	Enhancers	NH-A	brain
29	chr2:128158200-128160200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:128158200-128160200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:128158200-128160200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:128158200-128160400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:128158200-128160400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:128158200-128160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:128158400-128160000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr2:128158400-128160200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:128158400-128160800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:128158600-128159400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:128158600-128159400	Enhancers	HSMM	muscle
40	chr2:128158600-128159600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:128158600-128159600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:128158600-128160000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr2:128158600-128160200	Enhancers	Stomach Mucosa	stomach
44	chr2:128158600-128162000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:128158800-128159400	Enhancers	Osteobl	bone
46	chr2:128158800-128160000	Enhancers	GM12878-XiMat	blood
47	chr2:128158800-128160000	Flanking Active TSS	Hela-S3	cervix
48	chr2:128158800-128160000	Enhancers	HUVEC	blood vessel
49	chr2:128158800-128160200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:128158800-128160200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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