Variant report

Variant	rs9579383
Chromosome Location	chr13:30092683-30092684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30090549..30093247-chr13:30094397..30096373,2	K562	blood:
2	chr13:30091097..30092804-chr13:30167943..30169459,2	K562	blood:
3	chr13:30086595..30089289-chr13:30090102..30093020,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10454589	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10454590	1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs1411928	0.86[TSI][hapmap]
rs17601608	1.00[YRI][hapmap]
rs2150688	0.81[TSI][hapmap]
rs2150690	0.86[TSI][hapmap]
rs2482091	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2482093	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2490265	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2802248	0.86[TSI][hapmap]
rs2989593	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34369885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34496705	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3783260	0.93[TSI][hapmap]
rs478085	1.00[GIH][hapmap]
rs555913	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs6490409	0.93[TSI][hapmap]
rs71434731	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7328329	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs7329421	1.00[YRI][hapmap]
rs7333701	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7993193	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7998704	1.00[YRI][hapmap]
rs819388	0.92[GIH][hapmap]
rs9314960	1.00[YRI][hapmap]
rs9314962	1.00[YRI][hapmap]
rs9578103	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578104	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578105	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9578106	0.85[EUR][1000 genomes]
rs9578107	0.85[EUR][1000 genomes]
rs9579384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9579386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579387	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579388	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579389	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579391	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579392	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9579394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579395	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579398	1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs9579400	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs9579401	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs9579402	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9579403	0.90[AFR][1000 genomes]
rs9579404	0.90[AFR][1000 genomes]
rs9579406	1.00[YRI][hapmap]
rs9579407	1.00[YRI][hapmap]
rs9579408	1.00[YRI][hapmap]
rs9579410	1.00[ASW][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1006674	chr13:30091232-30095621	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30082000-30106600	Weak transcription	Fetal Kidney	kidney
3	chr13:30082000-30107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:30082800-30096000	Weak transcription	Liver	Liver
5	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
6	chr13:30083200-30107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:30083600-30094400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:30083600-30096400	Weak transcription	Small Intestine	intestine
9	chr13:30084200-30094800	Strong transcription	Thymus	Thymus
10	chr13:30084200-30106000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:30084200-30107800	Strong transcription	Esophagus	oesophagus
12	chr13:30084200-30110400	Strong transcription	Fetal Intestine Small	intestine
13	chr13:30084200-30110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:30084200-30112600	Strong transcription	NHEK	skin
15	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:30084400-30111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:30084600-30098000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:30084800-30098400	Strong transcription	Gastric	stomach
20	chr13:30084800-30110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:30084800-30110600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr13:30084800-30111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:30085000-30093800	Strong transcription	Fetal Intestine Large	intestine
24	chr13:30085000-30098600	Strong transcription	Pancreas	Pancrea
25	chr13:30085000-30099000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr13:30085000-30111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:30085200-30098800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr13:30085200-30099800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:30085200-30104200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr13:30085400-30099800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr13:30085600-30093200	Weak transcription	K562	blood
32	chr13:30085600-30098600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:30085600-30098600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr13:30085600-30098600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:30085800-30099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
39	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr13:30086200-30096800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:30086400-30098600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:30086600-30094000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:30086600-30094800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:30086600-30095200	Strong transcription	Fetal Thymus	thymus
46	chr13:30086600-30096200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:30086600-30098600	Strong transcription	HepG2	liver
48	chr13:30086600-30104800	Weak transcription	Fetal Brain Male	brain
49	chr13:30086800-30095600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr13:30086800-30097800	Strong transcription	A549	lung

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