Variant report

Variant	rs2482090
Chromosome Location	chr13:30091819-30091820
allele	C/G
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: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018680	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1124594	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	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277452	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482087	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482089	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482091	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2482092	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2482093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2490264	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490265	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2490266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490267	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776953	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776955	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776956	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776960	1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2776978	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776980	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776981	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776984	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776985	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776986	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802240	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802245	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802246	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802250	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2989592	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989593	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2989596	1.00[ASN][1000 genomes]
rs3011620	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3011622	1.00[EUR][1000 genomes]
rs3011623	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011624	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3011625	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013640	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013641	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	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	chr13:30085400-30092200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:30085400-30092600	Weak transcription	Brain Angular Gyrus	brain
32	chr13:30085400-30099800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr13:30085600-30093200	Weak transcription	K562	blood
34	chr13:30085600-30098600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:30085600-30098600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:30085600-30098600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:30085600-30111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:30085800-30099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
41	chr13:30086000-30110600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:30086000-30111200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr13:30086200-30096800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:30086400-30092400	Strong transcription	Colonic Mucosa	Colon
45	chr13:30086400-30098600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:30086600-30092200	Strong transcription	Colon Smooth Muscle	Colon
47	chr13:30086600-30094000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:30086600-30094800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:30086600-30095200	Strong transcription	Fetal Thymus	thymus
50	chr13:30086600-30096200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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