Variant report

Variant	rs1034513
Chromosome Location	chr3:43365605-43365606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10514709	1.00[EUR][1000 genomes]
rs1120779	1.00[MEX][hapmap]
rs12486205	1.00[EUR][1000 genomes]
rs1318453	1.00[EUR][1000 genomes]
rs1395373	1.00[MEX][hapmap]
rs1472807	1.00[MEX][hapmap]
rs17075340	1.00[EUR][1000 genomes]
rs17075375	1.00[EUR][1000 genomes]
rs17075379	1.00[EUR][1000 genomes]
rs17075391	1.00[EUR][1000 genomes]
rs17075395	1.00[EUR][1000 genomes]
rs17075409	1.00[EUR][1000 genomes]
rs17075517	1.00[EUR][1000 genomes]
rs17075521	1.00[EUR][1000 genomes]
rs1878721	1.00[EUR][1000 genomes]
rs2036616	1.00[MEX][hapmap]
rs2372367	1.00[EUR][1000 genomes]
rs4346523	1.00[MEX][hapmap]
rs4569634	1.00[MEX][hapmap]
rs4580522	1.00[EUR][1000 genomes]
rs4642093	1.00[MEX][hapmap]
rs4682883	1.00[ASW][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs4682884	1.00[MEX][hapmap]
rs6441771	1.00[MEX][hapmap]
rs6798292	1.00[EUR][1000 genomes]
rs6800990	1.00[EUR][1000 genomes]
rs7636644	1.00[MEX][hapmap]
rs7647197	1.00[MEX][hapmap]
rs7647227	1.00[EUR][1000 genomes]
rs906156	1.00[MEX][hapmap]
rs906157	1.00[MEX][hapmap]
rs938918	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1034513	ANO10	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:43345000-43368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:43345400-43367400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:43346000-43377000	Weak transcription	K562	blood
5	chr3:43346400-43367200	Weak transcription	Fetal Lung	lung
6	chr3:43348400-43378800	Weak transcription	Hela-S3	cervix
7	chr3:43350000-43367400	Weak transcription	Aorta	Aorta
8	chr3:43350400-43365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:43351000-43375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:43353000-43374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:43353200-43367400	Weak transcription	Dnd41	blood
12	chr3:43353400-43375200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:43354400-43369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:43359200-43367000	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:43359400-43366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:43359400-43366800	Weak transcription	Small Intestine	intestine
17	chr3:43359400-43367800	Weak transcription	Stomach Mucosa	stomach
18	chr3:43359400-43374000	Weak transcription	Placenta	Placenta
19	chr3:43359400-43376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:43359600-43366200	Weak transcription	Brain Substantia Nigra	brain
21	chr3:43359600-43367000	Weak transcription	Fetal Intestine Large	intestine
22	chr3:43359600-43367200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:43359600-43367200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:43359600-43367200	Weak transcription	Fetal Heart	heart
25	chr3:43359600-43367400	Weak transcription	Fetal Stomach	stomach
26	chr3:43359600-43367400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:43359600-43367800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:43359600-43371800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:43359600-43372000	Weak transcription	NHLF	lung
30	chr3:43359600-43372200	Weak transcription	HSMM	muscle
31	chr3:43359600-43375400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:43359600-43376200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:43359800-43367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:43359800-43367600	Weak transcription	HSMMtube	muscle
35	chr3:43359800-43368000	Weak transcription	Fetal Kidney	kidney
36	chr3:43359800-43368400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:43359800-43369800	Weak transcription	NHEK	skin
38	chr3:43360200-43368600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:43360400-43366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:43360400-43375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:43360400-43376200	Weak transcription	Brain Germinal Matrix	brain
42	chr3:43360600-43367200	Weak transcription	Psoas Muscle	Psoas
43	chr3:43361000-43367600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:43361200-43366400	Weak transcription	Fetal Intestine Small	intestine
45	chr3:43361200-43366800	Weak transcription	Pancreas	Pancrea
46	chr3:43361200-43367200	Weak transcription	Spleen	Spleen
47	chr3:43361200-43367600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:43361200-43367800	Weak transcription	Lung	lung
49	chr3:43361200-43374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:43361200-43377800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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