Variant report

Variant	rs1707244
Chromosome Location	chr13:96621261-96621262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1093275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2389568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3099361	0.89[ASW][hapmap]
rs3101572	0.82[AFR][1000 genomes]
rs3125437	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478025	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs481049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs481124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509323	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524961	0.96[AFR][1000 genomes]
rs530195	1.00[AMR][1000 genomes]
rs534493	1.00[ASW][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545894	0.85[AFR][1000 genomes]
rs555120	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559847	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs562356	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574109	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs592640	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs687921	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982873	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs816137	0.96[AFR][1000 genomes]
rs816138	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs816141	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs9525075	1.00[ASW][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9525076	1.00[ASW][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9584319	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	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96591600-96622000	Weak transcription	Hela-S3	cervix
3	chr13:96599000-96623600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:96609400-96623600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:96609800-96636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:96612200-96622800	Weak transcription	Spleen	Spleen
7	chr13:96612200-96623600	Weak transcription	Placenta	Placenta
8	chr13:96612200-96655000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:96612200-96668600	Weak transcription	Pancreas	Pancrea
10	chr13:96612400-96623200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:96613200-96694200	Weak transcription	A549	lung
12	chr13:96613400-96623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:96613400-96634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:96613400-96641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:96613400-96643000	Weak transcription	Right Ventricle	heart
16	chr13:96613600-96650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:96613600-96663600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:96614000-96652400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:96614200-96621400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:96616200-96623000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:96616200-96623800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:96616200-96668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:96616400-96624200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:96616400-96627000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:96616400-96636200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr13:96616600-96623400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:96616800-96623800	Weak transcription	Liver	Liver
28	chr13:96616800-96624600	Weak transcription	Brain Angular Gyrus	brain
29	chr13:96616800-96628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:96616800-96668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:96617000-96649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:96617000-96663200	Weak transcription	NHDF-Ad	bronchial
33	chr13:96617200-96621800	Weak transcription	Brain Anterior Caudate	brain
34	chr13:96617200-96625200	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:96617400-96638200	Weak transcription	HSMMtube	muscle
36	chr13:96618800-96622000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:96618800-96623800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:96618800-96654200	Weak transcription	Fetal Lung	lung
39	chr13:96619000-96622800	Weak transcription	HMEC	breast
40	chr13:96619000-96634200	Weak transcription	Brain Hippocampus Middle	brain
41	chr13:96619600-96638200	Weak transcription	Fetal Intestine Small	intestine
42	chr13:96620200-96623000	Weak transcription	Brain Substantia Nigra	brain
43	chr13:96620600-96621400	Strong transcription	Left Ventricle	heart
44	chr13:96620600-96621600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:96620600-96621600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:96620600-96621600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr13:96620600-96621800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:96620600-96621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:96620600-96622000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:96620600-96622000	Strong transcription	Aorta	Aorta

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