Variant report

Variant	rs816138
Chromosome Location	chr13:96624581-96624582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96623472..96625702-chr13:96633366..96635270,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1093275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1707244	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885047	1.00[EUR][1000 genomes]
rs2389568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3101572	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3125432	1.00[EUR][1000 genomes]
rs3125437	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs478025	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs481049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs481124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509323	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524961	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs530195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534493	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545894	0.85[AFR][1000 genomes]
rs548964	1.00[EUR][1000 genomes]
rs555120	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559847	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs562356	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs574109	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592640	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs687921	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7982873	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs816137	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs816141	0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9525075	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9525076	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584345	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96609800-96636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:96612200-96655000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:96612200-96668600	Weak transcription	Pancreas	Pancrea
4	chr13:96613200-96694200	Weak transcription	A549	lung
5	chr13:96613400-96634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:96613400-96641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:96613400-96643000	Weak transcription	Right Ventricle	heart
8	chr13:96613600-96650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:96613600-96663600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:96614000-96652400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:96616200-96668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:96616400-96627000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:96616400-96636200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:96616800-96624600	Weak transcription	Brain Angular Gyrus	brain
15	chr13:96616800-96628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:96616800-96668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:96617000-96649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:96617000-96663200	Weak transcription	NHDF-Ad	bronchial
19	chr13:96617200-96625200	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:96617400-96638200	Weak transcription	HSMMtube	muscle
21	chr13:96618800-96654200	Weak transcription	Fetal Lung	lung
22	chr13:96619000-96634200	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:96619600-96638200	Weak transcription	Fetal Intestine Small	intestine
24	chr13:96621000-96634400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:96621000-96636800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:96621400-96634200	Weak transcription	Left Ventricle	heart
27	chr13:96621600-96668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:96621800-96636800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:96622000-96637600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:96622000-96668600	Weak transcription	Aorta	Aorta
31	chr13:96622200-96634000	Weak transcription	Adipose Nuclei	Adipose
32	chr13:96622200-96634600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:96622200-96660400	Weak transcription	Ovary	ovary
34	chr13:96622200-96668600	Weak transcription	Fetal Kidney	kidney
35	chr13:96622200-96671400	Weak transcription	Hela-S3	cervix
36	chr13:96622200-96677200	Weak transcription	NH-A	brain
37	chr13:96622400-96624600	Weak transcription	Osteobl	bone
38	chr13:96622400-96629800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:96622400-96629800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:96622400-96637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:96622400-96668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:96622800-96647800	Weak transcription	HSMM	muscle
43	chr13:96623600-96668200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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