Variant report

Variant	rs4383025
Chromosome Location	chr13:40262271-40262272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1006635	1.00[AMR][1000 genomes]
rs13378904	1.00[AMR][1000 genomes]
rs17060145	1.00[AMR][1000 genomes]
rs2324340	1.00[AMR][1000 genomes]
rs3000477	1.00[AMR][1000 genomes]
rs3000480	1.00[AMR][1000 genomes]
rs3000484	1.00[AMR][1000 genomes]
rs3000486	1.00[AMR][1000 genomes]
rs3012138	1.00[AMR][1000 genomes]
rs3012148	1.00[AMR][1000 genomes]
rs3012150	1.00[AMR][1000 genomes]
rs4268631	1.00[AMR][1000 genomes]
rs4318086	1.00[AMR][1000 genomes]
rs4324019	1.00[AMR][1000 genomes]
rs4326926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4488331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4943690	1.00[AMR][1000 genomes]
rs6563741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563744	1.00[AMR][1000 genomes]
rs7319899	1.00[AMR][1000 genomes]
rs7333700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7336514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7490747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996170	1.00[AMR][1000 genomes]
rs9315727	1.00[AMR][1000 genomes]
rs9532415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9532418	1.00[AMR][1000 genomes]
rs9532421	1.00[AMR][1000 genomes]
rs9548864	1.00[AMR][1000 genomes]
rs9594354	1.00[AMR][1000 genomes]
rs9603614	1.00[AMR][1000 genomes]
rs9805352	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv870429	chr13:40235061-40265634	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv471130	chr13:40261945-40350912	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40230600-40263800	Weak transcription	Spleen	Spleen
2	chr13:40230800-40275000	Weak transcription	Right Ventricle	heart
3	chr13:40231000-40266200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:40231000-40270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:40231000-40286000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:40231400-40264200	Weak transcription	Esophagus	oesophagus
7	chr13:40231400-40268000	Weak transcription	Small Intestine	intestine
8	chr13:40231600-40270200	Weak transcription	Gastric	stomach
9	chr13:40233000-40273600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:40233000-40295600	Weak transcription	Pancreas	Pancrea
11	chr13:40238000-40291600	Weak transcription	Fetal Intestine Small	intestine
12	chr13:40246200-40262800	Weak transcription	Fetal Heart	heart
13	chr13:40246400-40297400	Weak transcription	HUVEC	blood vessel
14	chr13:40253000-40266200	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:40253400-40266600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:40254600-40264000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr13:40255000-40262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:40255000-40262400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:40255000-40262400	Weak transcription	Aorta	Aorta
20	chr13:40255000-40263800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:40255000-40264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:40255000-40266600	Weak transcription	Fetal Stomach	stomach
23	chr13:40255000-40268000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:40255000-40270000	Weak transcription	Lung	lung
25	chr13:40255000-40291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:40255000-40306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:40255200-40262400	Weak transcription	HSMMtube	muscle
28	chr13:40255200-40265800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:40255200-40272800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:40255200-40291000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:40255400-40266800	Weak transcription	NHLF	lung
32	chr13:40255400-40272800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:40255600-40262400	Weak transcription	Left Ventricle	heart
34	chr13:40255600-40262600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:40255600-40262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:40255600-40264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:40255600-40266800	Weak transcription	Brain Angular Gyrus	brain
38	chr13:40255600-40270800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:40255600-40272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr13:40255600-40283600	Weak transcription	Fetal Brain Male	brain
41	chr13:40255800-40266600	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:40255800-40271000	Weak transcription	Ovary	ovary
43	chr13:40255800-40283800	Weak transcription	Brain Anterior Caudate	brain
44	chr13:40255800-40340200	Weak transcription	Psoas Muscle	Psoas
45	chr13:40256800-40264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:40257600-40264200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:40257600-40264600	Weak transcription	Fetal Thymus	thymus
48	chr13:40257600-40274600	Weak transcription	HMEC	breast
49	chr13:40257600-40310800	Weak transcription	Brain Germinal Matrix	brain
50	chr13:40257800-40263800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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