Variant report

Variant	rs813915
Chromosome Location	chr6:128287313-128287314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3190930	0.94[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35469349	0.86[ASN][1000 genomes]
rs3933376	1.00[JPT][hapmap]
rs41285280	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4341027	1.00[JPT][hapmap]
rs4559105	1.00[JPT][hapmap]
rs55743914	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739912	1.00[JPT][hapmap]
rs802731	0.83[AMR][1000 genomes];0.80[EUR][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	esv1849854	chr6:128143774-128287313	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs813915	TPD52L1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128270600-128293400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:128272400-128292600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:128278800-128297200	Weak transcription	Ovary	ovary
4	chr6:128280400-128304600	Weak transcription	Fetal Brain Male	brain
5	chr6:128281000-128293000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:128281200-128289800	Weak transcription	NH-A	brain
7	chr6:128281400-128289400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:128281600-128288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:128281800-128288400	Weak transcription	HSMM	muscle
10	chr6:128284200-128288600	Weak transcription	Fetal Stomach	stomach
11	chr6:128284800-128288600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:128285000-128288200	Weak transcription	Fetal Thymus	thymus
13	chr6:128285200-128288800	Weak transcription	Fetal Lung	lung
14	chr6:128285200-128289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:128285200-128292600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:128285400-128287800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:128285600-128287800	Weak transcription	HSMMtube	muscle
18	chr6:128285600-128289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:128285600-128307400	Weak transcription	Aorta	Aorta
20	chr6:128285800-128292200	Weak transcription	NHDF-Ad	bronchial
21	chr6:128286000-128290000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:128286000-128290000	Weak transcription	HUVEC	blood vessel
23	chr6:128286200-128292400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:128286200-128293000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:128286400-128289000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:128286600-128288200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:128286600-128288200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:128286800-128297000	Weak transcription	Lung	lung
29	chr6:128287000-128288600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:128287000-128288800	Weak transcription	Fetal Intestine Large	intestine
31	chr6:128287000-128292400	Weak transcription	NHEK	skin
32	chr6:128287000-128300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:128287200-128288600	Weak transcription	Primary T cells from cord blood	blood
34	chr6:128287200-128288800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:128287200-128288800	Weak transcription	Left Ventricle	heart
36	chr6:128287200-128289000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:128287200-128292600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:128287200-128294200	Weak transcription	Fetal Intestine Small	intestine
39	chr6:128287200-128309000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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