Variant report

Variant	rs914362
Chromosome Location	chr13:30112971-30112972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30112955..30115406-chr13:30118439..30120354,2	MCF-7	breast:
2	chr13:30107535..30109992-chr13:30110581..30113126,3	K562	blood:
3	chr13:30111583..30114649-chr13:30115841..30119376,3	K562	blood:
4	chr13:30112090..30114649-chr13:30117071..30118853,2	K562	blood:
5	chr13:30112240..30114585-chr13:30159396..30161968,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1018679	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1018682	0.91[ASN][1000 genomes]
rs12428026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1411928	0.95[CHB][hapmap]
rs166828	0.81[CHB][hapmap]
rs1877463	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs2026322	0.83[EUR][1000 genomes]
rs2150688	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2150690	1.00[CHB][hapmap]
rs2150693	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2183717	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236499	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2277451	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2776959	0.95[CHB][hapmap]
rs2776963	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2802248	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs2802249	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs280922	0.81[CHB][hapmap]
rs280923	0.85[CHB][hapmap]
rs280930	0.81[CHB][hapmap]
rs280933	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs280934	0.81[CHB][hapmap]
rs280936	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs2989594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3011605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783260	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs3783261	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783262	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs3783263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3825536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs476506	0.81[CHB][hapmap]
rs57383892	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs579451	0.81[CHB][hapmap]
rs617892	0.81[CHB][hapmap]
rs6490409	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs72623486	0.88[EUR][1000 genomes]
rs7997827	0.81[CHB][hapmap];0.94[MEX][hapmap]
rs883055	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs9550481	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550482	0.90[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9551696	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551699	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
4	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
9	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
11	chr13:30102800-30113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:30103800-30122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:30104200-30113000	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
17	chr13:30105000-30120000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:30105000-30120200	Weak transcription	Brain Substantia Nigra	brain
19	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
20	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30107000-30123200	Weak transcription	K562	blood
22	chr13:30107200-30120600	Weak transcription	Fetal Thymus	thymus
23	chr13:30107200-30122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:30107200-30123200	Weak transcription	A549	lung
25	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
26	chr13:30107400-30114800	Weak transcription	Left Ventricle	heart
27	chr13:30107400-30115000	Weak transcription	Aorta	Aorta
28	chr13:30107400-30122600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:30107400-30129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr13:30107800-30114200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30107800-30119800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr13:30108000-30122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:30108400-30113000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30108800-30114200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr13:30108800-30120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:30109000-30113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:30109800-30113400	Enhancers	Duodenum Mucosa	Duodenum
38	chr13:30110200-30113400	Weak transcription	GM12878-XiMat	blood
39	chr13:30110400-30113400	Weak transcription	HepG2	liver
40	chr13:30110400-30113600	Enhancers	HUVEC	blood vessel
41	chr13:30110400-30114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr13:30110400-30117400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:30110400-30120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:30110400-30122200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:30110400-30123200	Weak transcription	Lung	lung
46	chr13:30110400-30123400	Weak transcription	Spleen	Spleen
47	chr13:30110400-30123400	Weak transcription	NHLF	lung
48	chr13:30110400-30124200	Weak transcription	HMEC	breast
49	chr13:30110400-30127200	Weak transcription	Brain Angular Gyrus	brain
50	chr13:30110600-30113000	Weak transcription	H1 Cell Line	embryonic stem cell

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