Variant report

Variant	rs278039
Chromosome Location	chr13:30421471-30421472
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30421079..30421752-chr13:30498389..30499250,2	MCF-7	breast:
2	chr13:30337425..30339161-chr13:30421221..30423789,2	MCF-7	breast:
3	chr13:30421278..30427133-chr13:30682148..30691157,22	MCF-7	breast:
4	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
5	chr13:30418151..30421595-chr13:30683662..30686422,3	MCF-7	breast:
6	chr13:30169032..30171181-chr13:30420595..30423198,2	MCF-7	breast:
7	chr13:30419919..30422881-chr13:30423203..30424987,3	MCF-7	breast:
8	chr13:30418877..30421858-chr13:30687750..30689569,3	MCF-7	breast:
9	chr13:30419645..30422998-chr13:30423356..30426186,4	K562	blood:
10	chr13:30419958..30421737-chr13:30423356..30425761,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224405	Chromatin interaction
ENSG00000139514	Chromatin interaction
ENSG00000224511	Chromatin interaction
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1099277	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12861019	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864739	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868469	0.85[EUR][1000 genomes]
rs12869833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571255	0.87[ASN][1000 genomes]
rs1631987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747058	1.00[ASN][1000 genomes]
rs1747059	1.00[ASN][1000 genomes]
rs1747060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.82[ASN][1000 genomes]
rs2031280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182775	0.82[ASN][1000 genomes]
rs2182776	0.82[ASN][1000 genomes]
rs2182777	0.82[ASN][1000 genomes]
rs2256122	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476650	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794296	1.00[ASN][1000 genomes]
rs2794297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2794300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892464	0.81[EUR][1000 genomes]
rs3118078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3118079	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114731	0.82[EUR][1000 genomes]
rs34129219	0.85[EUR][1000 genomes]
rs34232669	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317115	0.85[EUR][1000 genomes]
rs34333613	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34726132	0.82[EUR][1000 genomes]
rs34837672	0.85[EUR][1000 genomes]
rs34943308	0.82[EUR][1000 genomes]
rs35177317	0.85[EUR][1000 genomes]
rs35452290	0.82[EUR][1000 genomes]
rs35520191	0.85[EUR][1000 genomes]
rs35693706	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35727212	0.85[EUR][1000 genomes]
rs35735441	0.85[EUR][1000 genomes]
rs35828457	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849390	0.82[EUR][1000 genomes]
rs35933528	0.85[EUR][1000 genomes]
rs36082926	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4142339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.87[ASN][1000 genomes]
rs4385989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399408	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4611301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.82[ASN][1000 genomes]
rs4769024	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57634252	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961964	1.00[ASN][1000 genomes]
rs6490427	1.00[ASN][1000 genomes]
rs6490428	1.00[ASN][1000 genomes]
rs6490431	1.00[ASN][1000 genomes]
rs71427282	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434758	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434759	0.85[EUR][1000 genomes]
rs71434760	0.85[EUR][1000 genomes]
rs71434762	0.85[EUR][1000 genomes]
rs71434763	0.85[EUR][1000 genomes]
rs71434764	0.82[EUR][1000 genomes]
rs71434765	0.82[EUR][1000 genomes]
rs71434766	0.82[EUR][1000 genomes]
rs719199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322158	0.87[ASN][1000 genomes]
rs74044752	1.00[ASN][1000 genomes]
rs7983788	1.00[ASN][1000 genomes]
rs7985986	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.83[EUR][1000 genomes]
rs8001320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8001330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912394	0.87[ASN][1000 genomes]
rs9314977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943561	0.82[ASN][1000 genomes]
rs9508549	0.82[ASN][1000 genomes]
rs9508551	1.00[ASN][1000 genomes]
rs9550492	1.00[ASN][1000 genomes]
rs9551734	0.87[ASN][1000 genomes]
rs968612	1.00[ASN][1000 genomes]
rs9788356	0.87[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30409800-30421600	Weak transcription	Left Ventricle	heart
2	chr13:30416600-30421600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30417800-30425200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:30418600-30423400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:30418600-30425000	Active TSS	GM12878-XiMat	blood
6	chr13:30419200-30421600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:30419400-30424800	Active TSS	Placenta Amnion	Placenta Amnion
8	chr13:30419400-30425000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:30419600-30421600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:30419600-30425000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:30419800-30422400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr13:30420000-30422200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr13:30420200-30425000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:30420400-30421600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:30420400-30423000	Active TSS	Brain Germinal Matrix	brain
16	chr13:30420400-30424800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:30420400-30424800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr13:30420400-30424800	Active TSS	HSMMtube	muscle
19	chr13:30420400-30424800	Active TSS	NHLF	lung
20	chr13:30420400-30425000	Active TSS	Brain Angular Gyrus	brain
21	chr13:30420600-30422200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr13:30420600-30422400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:30420600-30422400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr13:30420600-30423200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr13:30420600-30424800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr13:30420600-30425000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:30420600-30425000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:30420600-30425000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr13:30420600-30425000	Active TSS	A549	lung
30	chr13:30420600-30425200	Active TSS	Brain Substantia Nigra	brain
31	chr13:30420800-30421600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:30420800-30421600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr13:30420800-30421600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:30420800-30421600	Enhancers	Primary B cells from peripheral blood	blood
35	chr13:30420800-30421600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr13:30420800-30421600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr13:30420800-30421600	Flanking Active TSS	Fetal Kidney	kidney
38	chr13:30420800-30421600	Active TSS	Psoas Muscle	Psoas
39	chr13:30420800-30421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:30420800-30421800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr13:30420800-30422200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr13:30420800-30422200	Flanking Active TSS	Liver	Liver
43	chr13:30420800-30422200	Flanking Active TSS	NHEK	skin
44	chr13:30420800-30422400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr13:30420800-30422400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr13:30420800-30422400	Flanking Active TSS	HUVEC	blood vessel
47	chr13:30420800-30423000	Active TSS	Fetal Brain Male	brain
48	chr13:30420800-30424000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:30420800-30424200	Active TSS	Right Atrium	heart
50	chr13:30420800-30424800	Active TSS	Aorta	Aorta

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