Variant report

Variant	rs9579386
Chromosome Location	chr13:30101432-30101433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30097786..30100051-chr13:30101408..30104105,2	K562	blood:
2	chr13:30097786..30099573-chr13:30101408..30103698,3	K562	blood:
3	chr13:30101340..30102854-chr13:30169673..30171282,2	K562	blood:
4	chr13:30086183..30088447-chr13:30100578..30102906,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 54 )
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];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34496705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3783260	0.93[TSI][hapmap]
rs478085	1.00[GIH][hapmap]
rs555913	1.00[CHD][hapmap];0.93[GIH][hapmap]
rs6490409	0.93[TSI][hapmap]
rs71434731	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7328329	1.00[CHD][hapmap];0.93[GIH][hapmap]
rs7329421	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs7333701	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7993193	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7998704	1.00[YRI][hapmap]
rs819388	0.93[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];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578104	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578105	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9578106	0.85[EUR][1000 genomes]
rs9578107	0.85[EUR][1000 genomes]
rs9579383	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]
rs9579384	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]
rs9579387	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579388	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579389	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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];1.00[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[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]
rs9579394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579395	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579396	1.00[AFR][1000 genomes];1.00[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];0.93[GIH][hapmap]
rs9579401	1.00[CHD][hapmap];0.93[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: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:125 , 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	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
5	chr13:30083200-30107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:30084200-30106000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:30084200-30107800	Strong transcription	Esophagus	oesophagus
8	chr13:30084200-30110400	Strong transcription	Fetal Intestine Small	intestine
9	chr13:30084200-30110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:30084200-30112600	Strong transcription	NHEK	skin
11	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:30084400-30111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30084800-30110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:30084800-30110600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr13:30084800-30111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:30085000-30111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:30085200-30104200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
22	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr13:30086600-30104800	Weak transcription	Fetal Brain Male	brain
25	chr13:30087000-30110200	Strong transcription	GM12878-XiMat	blood
26	chr13:30088000-30104600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr13:30089800-30110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr13:30092800-30106400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr13:30094000-30108000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr13:30095600-30110600	Strong transcription	Thymus	Thymus
34	chr13:30095800-30102200	Weak transcription	Ovary	ovary
35	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:30096000-30102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:30096000-30110400	Strong transcription	NHLF	lung
38	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
39	chr13:30096200-30107000	Strong transcription	Fetal Stomach	stomach
40	chr13:30096600-30106200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:30096800-30111600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:30096800-30112200	Weak transcription	Liver	Liver
44	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:30097400-30103400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:30097800-30102200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:30097800-30102400	Weak transcription	A549	lung
48	chr13:30097800-30103200	Weak transcription	Colon Smooth Muscle	Colon
49	chr13:30097800-30103400	Weak transcription	Brain Hippocampus Middle	brain
50	chr13:30097800-30103400	Weak transcription	Brain Substantia Nigra	brain

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