Variant report

Variant	rs7999737
Chromosome Location	chr13:96602734-96602735
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10508027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616724	0.89[EUR][1000 genomes]
rs11618108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11619636	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12428062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12430152	1.00[JPT][hapmap]
rs1330556	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1330557	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951448	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1788062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1854758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2129006	0.82[EUR][1000 genomes]
rs2170813	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3099362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3099363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3101570	1.00[JPT][hapmap]
rs4254181	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4347496	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4383020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4409947	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4526890	0.95[ASN][1000 genomes]
rs4547219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs475882	0.80[CEU][hapmap]
rs476954	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4773932	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492247	0.84[EUR][1000 genomes]
rs493423	0.91[EUR][1000 genomes]
rs495214	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs502311	0.86[EUR][1000 genomes]
rs504340	0.84[EUR][1000 genomes]
rs526702	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs531549	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs534010	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs534429	0.88[CEU][hapmap]
rs537463	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs539293	0.84[EUR][1000 genomes]
rs540213	0.88[CEU][hapmap]
rs56077337	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs565297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs565851	0.88[CEU][hapmap]
rs565898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs568170	0.91[EUR][1000 genomes]
rs581462	0.86[EUR][1000 genomes]
rs645595	1.00[JPT][hapmap]
rs651812	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs661544	0.86[ASN][1000 genomes]
rs662884	0.89[CEU][hapmap];0.86[ASN][1000 genomes]
rs672988	0.86[EUR][1000 genomes]
rs674565	0.89[CEU][hapmap]
rs675144	0.88[CEU][hapmap]
rs688133	0.86[EUR][1000 genomes]
rs72636541	0.95[ASN][1000 genomes]
rs72636556	1.00[ASN][1000 genomes]
rs72636562	0.98[ASN][1000 genomes]
rs72636570	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72637833	0.82[EUR][1000 genomes]
rs72637836	0.82[EUR][1000 genomes]
rs72637837	0.82[EUR][1000 genomes]
rs72637840	0.89[EUR][1000 genomes]
rs72638023	0.89[EUR][1000 genomes]
rs72638024	0.89[EUR][1000 genomes]
rs72638031	0.84[EUR][1000 genomes]
rs7323408	1.00[JPT][hapmap]
rs7331211	1.00[JPT][hapmap]
rs7331549	1.00[JPT][hapmap]
rs7332078	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7334320	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7335209	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7339059	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8000018	0.95[ASN][1000 genomes]
rs816122	0.86[EUR][1000 genomes]
rs816142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9516621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9525077	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9525079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9525097	0.83[AFR][1000 genomes]
rs9584324	1.00[JPT][hapmap]
rs9590344	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][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	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96577800-96608800	Weak transcription	NHEK	skin
3	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:96588600-96603400	Weak transcription	NH-A	brain
5	chr13:96588800-96605400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:96588800-96606400	Weak transcription	Fetal Heart	heart
7	chr13:96588800-96611200	Weak transcription	Gastric	stomach
8	chr13:96589000-96603000	Weak transcription	Fetal Kidney	kidney
9	chr13:96589000-96603600	Weak transcription	Right Ventricle	heart
10	chr13:96589000-96604400	Weak transcription	Placenta	Placenta
11	chr13:96589000-96605800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:96589000-96609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:96589000-96609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:96589000-96611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:96589000-96611000	Weak transcription	Pancreas	Pancrea
16	chr13:96589000-96611800	Weak transcription	A549	lung
17	chr13:96589000-96611800	Weak transcription	HepG2	liver
18	chr13:96589000-96612000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:96589200-96609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:96589200-96609600	Weak transcription	Fetal Stomach	stomach
22	chr13:96589400-96608600	Weak transcription	Brain Germinal Matrix	brain
23	chr13:96591400-96605800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:96591400-96609200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:96591600-96603600	Weak transcription	Fetal Lung	lung
26	chr13:96591600-96603600	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:96591600-96605000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:96591600-96608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:96591600-96608800	Weak transcription	K562	blood
30	chr13:96591600-96611000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:96591600-96622000	Weak transcription	Hela-S3	cervix
32	chr13:96592200-96602800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr13:96592200-96603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:96592200-96603600	Weak transcription	Ovary	ovary
35	chr13:96592200-96605000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:96592200-96608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:96592200-96608800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:96592200-96609600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:96592200-96611200	Weak transcription	Liver	Liver
40	chr13:96592200-96611800	Weak transcription	Aorta	Aorta
41	chr13:96592200-96612000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr13:96592200-96616200	Weak transcription	Brain Angular Gyrus	brain
43	chr13:96592400-96611400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:96593200-96603600	Weak transcription	Left Ventricle	heart
45	chr13:96594600-96613000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:96599000-96623600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:96599200-96607600	Weak transcription	HMEC	breast
48	chr13:96599400-96608400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:96599400-96620600	Weak transcription	HSMM	muscle
50	chr13:96599600-96613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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