Variant report

Variant	rs3087770
Chromosome Location	chr13:49867290-49867291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49865941..49868717-chr13:49870815..49873076,2	K562	blood:
2	chr13:49857967..49860546-chr13:49866178..49867693,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10459375	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459376	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11843587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12385878	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12585196	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1924659	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1924660	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1924661	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2038759	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147398	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2181905	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2274149	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274150	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407521	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407607	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2407608	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2407609	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764131	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4245351	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4941637	0.87[EUR][1000 genomes]
rs4942809	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942811	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942812	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942815	0.86[EUR][1000 genomes]
rs6561511	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs719614	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7320595	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7320745	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7326181	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7326191	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7328063	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7330892	0.86[EUR][1000 genomes]
rs7334929	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7984689	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7988621	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997545	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7999710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316434	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316437	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316439	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526533	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526534	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526535	0.90[ASN][1000 genomes]
rs9526537	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526538	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526539	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535173	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535174	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535177	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535180	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535181	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535182	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535184	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535185	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535192	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535193	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535194	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535197	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535198	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535199	0.85[EUR][1000 genomes]
rs9535200	0.80[EUR][1000 genomes]
rs9562873	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568174	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568176	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568177	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568179	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568181	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568182	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591249	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596077	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596078	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596079	0.86[EUR][1000 genomes]
rs9596080	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
2	chr13:49834200-49875200	Weak transcription	Gastric	stomach
3	chr13:49834800-49873000	Weak transcription	HMEC	breast
4	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
5	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
7	chr13:49838600-49875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:49842600-49874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:49842800-49869400	Weak transcription	Lung	lung
10	chr13:49842800-49875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:49848000-49873800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:49853800-49875400	Weak transcription	Primary T cells from cord blood	blood
15	chr13:49853800-49875400	Weak transcription	Fetal Intestine Large	intestine
16	chr13:49854000-49871400	Weak transcription	Spleen	Spleen
17	chr13:49854000-49875000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:49854000-49875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:49854000-49875200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr13:49854000-49877600	Weak transcription	Left Ventricle	heart
21	chr13:49854000-49883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:49855000-49875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:49857200-49875200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:49861400-49869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:49862000-49875400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:49862000-49875600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:49862400-49868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:49863000-49872200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:49863200-49875000	Weak transcription	Dnd41	blood
30	chr13:49865000-49871600	Weak transcription	Pancreas	Pancrea
31	chr13:49865800-49868400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr13:49866400-49867600	Enhancers	Primary hematopoietic stem cells	blood
33	chr13:49866400-49867800	Enhancers	Rectal Smooth Muscle	rectum
34	chr13:49866400-49867800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:49866600-49867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:49866600-49867800	Enhancers	Fetal Heart	heart
37	chr13:49866600-49868400	Enhancers	Fetal Lung	lung
38	chr13:49866600-49871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:49866800-49867400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:49866800-49867400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr13:49866800-49867400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr13:49866800-49867400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:49866800-49867400	Enhancers	Adipose Nuclei	Adipose
44	chr13:49866800-49867400	Enhancers	Brain Angular Gyrus	brain
45	chr13:49866800-49867400	Enhancers	Brain Anterior Caudate	brain
46	chr13:49866800-49867400	Enhancers	Brain Germinal Matrix	brain
47	chr13:49866800-49867400	Enhancers	Stomach Smooth Muscle	stomach
48	chr13:49866800-49867400	Enhancers	Osteobl	bone
49	chr13:49866800-49867600	Enhancers	Fetal Stomach	stomach
50	chr13:49866800-49867800	Enhancers	Colon Smooth Muscle	Colon

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