Variant report

Variant	rs2482091
Chromosome Location	chr13:30099267-30099268
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..30099573-chr13:30101408..30103698,3	K562	blood:
2	chr13:30097786..30100051-chr13:30101408..30104105,2	K562	blood:
3	chr13:30085195..30087223-chr13:30096814..30099566,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1018680	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10454589	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10454590	0.85[EUR][1000 genomes]
rs1124594	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12427581	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12428751	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs17073661	0.81[ASN][1000 genomes]
rs17660515	1.00[ASN][1000 genomes]
rs2277452	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482087	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482089	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482090	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490264	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2490265	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490266	1.00[ASN][1000 genomes]
rs2490267	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776952	1.00[ASN][1000 genomes]
rs2776953	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776955	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776956	0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776958	1.00[ASN][1000 genomes]
rs2776960	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2802240	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2802250	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2989592	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2989593	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989596	1.00[ASN][1000 genomes]
rs3011623	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3011624	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3011625	1.00[ASN][1000 genomes]
rs3013640	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3013641	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34369885	0.97[EUR][1000 genomes]
rs34496705	0.99[EUR][1000 genomes]
rs71434731	0.97[EUR][1000 genomes]
rs7993193	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9578103	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9578104	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9578105	0.97[EUR][1000 genomes]
rs9578106	0.85[EUR][1000 genomes]
rs9578107	0.85[EUR][1000 genomes]
rs9579383	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579384	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9579386	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579387	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579388	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579389	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579390	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579391	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579392	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9579393	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9579394	0.97[EUR][1000 genomes]
rs9579395	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9579396	0.97[EUR][1000 genomes]
rs9579398	0.85[EUR][1000 genomes]

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:126 , 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	chr13:30085200-30099800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:30085200-30104200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:30085400-30099800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr13:30085800-30099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
25	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:30086600-30104800	Weak transcription	Fetal Brain Male	brain
28	chr13:30087000-30099600	Strong transcription	Fetal Brain Female	brain
29	chr13:30087000-30110200	Strong transcription	GM12878-XiMat	blood
30	chr13:30087400-30099600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr13:30088000-30104600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:30089800-30110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr13:30092800-30106400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr13:30094000-30108000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr13:30095600-30110600	Strong transcription	Thymus	Thymus
39	chr13:30095800-30102200	Weak transcription	Ovary	ovary
40	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:30096000-30102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:30096000-30110400	Strong transcription	NHLF	lung
43	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
44	chr13:30096200-30107000	Strong transcription	Fetal Stomach	stomach
45	chr13:30096400-30099400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:30096400-30099800	Strong transcription	Hela-S3	cervix
47	chr13:30096600-30106200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:30096800-30111600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:30096800-30112200	Weak transcription	Liver	Liver

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