Variant report

Variant	rs3011622
Chromosome Location	chr13:30079486-30079487
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12427581	0.82[JPT][hapmap]
rs12428751	0.82[JPT][hapmap]
rs17073661	1.00[JPT][hapmap]
rs17660515	1.00[EUR][1000 genomes]
rs2277452	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2482087	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2482089	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2482090	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2482097	0.92[ASN][1000 genomes]
rs2490264	1.00[CEU][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2490266	1.00[EUR][1000 genomes]
rs2490267	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2490268	0.92[ASN][1000 genomes]
rs2776952	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2776953	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2776955	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2776956	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2776958	1.00[EUR][1000 genomes]
rs2776960	0.82[YRI][hapmap]
rs2776978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776979	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776980	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776981	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776983	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2776984	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776985	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776986	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802240	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2802243	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802244	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802246	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989592	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs3011618	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011619	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3011620	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011623	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3011624	1.00[EUR][1000 genomes]
rs3011625	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3013640	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs3013641	1.00[CEU][hapmap];1.00[EUR][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	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:30071000-30128800	Strong transcription	Dnd41	blood
5	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:30072800-30082600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:30074800-30080400	Weak transcription	Pancreas	Pancrea
8	chr13:30074800-30082600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:30074800-30084800	Weak transcription	Gastric	stomach
10	chr13:30077000-30079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30077000-30080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:30077400-30079800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30077400-30080400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:30077600-30080400	Weak transcription	HSMMtube	muscle
15	chr13:30077600-30081400	Weak transcription	HSMM	muscle
16	chr13:30077600-30081800	Weak transcription	Fetal Brain Male	brain
17	chr13:30077600-30082000	Weak transcription	Brain Germinal Matrix	brain
18	chr13:30077600-30082000	Weak transcription	Fetal Brain Female	brain
19	chr13:30077600-30082200	Weak transcription	Esophagus	oesophagus
20	chr13:30077800-30081000	Weak transcription	Ovary	ovary
21	chr13:30077800-30085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:30077800-30085600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:30077800-30087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:30078000-30082200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:30078000-30084800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:30078000-30086000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:30078400-30079800	Weak transcription	Fetal Heart	heart
28	chr13:30078400-30081000	Weak transcription	Left Ventricle	heart
29	chr13:30078400-30081200	Weak transcription	NHDF-Ad	bronchial
30	chr13:30078400-30081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:30078400-30082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:30078400-30082600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:30078600-30082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:30078600-30082400	Weak transcription	Right Ventricle	heart
35	chr13:30079000-30080000	Strong transcription	Aorta	Aorta
36	chr13:30079000-30085800	Weak transcription	Primary T cells from cord blood	blood
37	chr13:30079200-30079600	Weak transcription	Fetal Muscle Leg	muscle
38	chr13:30079200-30082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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