Variant report

Variant	rs4885330
Chromosome Location	chr13:76198599-76198600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11840945	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12866456	0.94[ASN][1000 genomes]
rs12872149	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1323696	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1535726	0.95[ASN][1000 genomes]
rs2031235	0.91[ASN][1000 genomes]
rs2274049	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281762	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2328961	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328962	0.94[ASN][1000 genomes]
rs3812844	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3812845	0.82[ASN][1000 genomes]
rs3812846	0.82[ASN][1000 genomes]
rs4539477	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4884008	0.91[ASN][1000 genomes]
rs4885312	0.91[ASN][1000 genomes]
rs4885313	0.90[ASN][1000 genomes]
rs4885319	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885321	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885328	0.95[ASN][1000 genomes]
rs4885331	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885332	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885333	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885334	0.95[ASN][1000 genomes]
rs61960594	0.94[ASN][1000 genomes]
rs6562920	0.97[ASN][1000 genomes]
rs7139862	0.91[ASN][1000 genomes]
rs7319441	0.83[ASN][1000 genomes]
rs7326807	0.82[ASN][1000 genomes]
rs7331205	0.88[ASN][1000 genomes]
rs7358977	0.90[ASN][1000 genomes]
rs7491365	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7982534	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7982613	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984443	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7995889	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8000062	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8192738	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8192741	0.91[ASN][1000 genomes]
rs8192746	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8192750	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8192751	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8192753	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530450	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530453	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9543994	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9543996	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9543997	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9543999	0.95[ASN][1000 genomes]
rs9544008	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565175	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9573584	0.91[ASN][1000 genomes]
rs9573590	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635000	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966058	0.91[ASN][1000 genomes]
rs966059	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs972542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs975938	0.83[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	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:76149800-76209600	Weak transcription	Lung	lung
5	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
7	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
8	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
10	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
12	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
13	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
14	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
15	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
17	chr13:76180800-76204600	Weak transcription	Dnd41	blood
18	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
20	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
22	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
27	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:76181600-76207400	Weak transcription	HMEC	breast
29	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
32	chr13:76191000-76201200	Weak transcription	Brain Anterior Caudate	brain
33	chr13:76191600-76201400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
37	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:76196000-76200000	Weak transcription	Aorta	Aorta
39	chr13:76196200-76207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:76196800-76203600	Weak transcription	NH-A	brain
41	chr13:76197000-76203600	Weak transcription	HSMMtube	muscle
42	chr13:76197000-76209600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:76197600-76199400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:76197600-76201600	Weak transcription	NHLF	lung
45	chr13:76197800-76202200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:76197800-76209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:76198000-76200200	Strong transcription	Primary T cells from cord blood	blood
48	chr13:76198000-76200200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:76198200-76198600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr13:76198200-76198600	Genic enhancers	HSMM	muscle

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