Variant report

Variant	rs10512834
Chromosome Location	chr5:43695441-43695442
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43693849..43696820-chr5:43701350..43704345,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16873406	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16873501	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41271077	0.86[EUR][1000 genomes]
rs56193661	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6863191	0.86[EUR][1000 genomes]
rs6873555	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6890419	1.00[CEU][hapmap]
rs6896527	1.00[CEU][hapmap]
rs7700826	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7702621	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7715976	1.00[CEU][hapmap]
rs7716564	1.00[CEU][hapmap]
rs7723677	0.85[CEU][hapmap]
rs7728139	1.00[CEU][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10512834	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43659400-43696800	Weak transcription	Gastric	stomach
2	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
3	chr5:43659600-43710000	Weak transcription	Ovary	ovary
4	chr5:43661000-43695600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:43661000-43702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:43664800-43699800	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:43665200-43702400	Weak transcription	Fetal Heart	heart
9	chr5:43666800-43696600	Weak transcription	Spleen	Spleen
10	chr5:43667000-43695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:43667000-43696800	Weak transcription	Lung	lung
12	chr5:43667000-43703200	Weak transcription	Colonic Mucosa	Colon
13	chr5:43672400-43695800	Weak transcription	Esophagus	oesophagus
14	chr5:43673400-43696400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:43674600-43696400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:43674600-43699600	Weak transcription	Pancreas	Pancrea
17	chr5:43675200-43711400	Weak transcription	NH-A	brain
18	chr5:43676400-43703200	Weak transcription	Osteobl	bone
19	chr5:43676600-43701200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:43679000-43703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:43679200-43702800	Weak transcription	HUVEC	blood vessel
22	chr5:43680800-43702400	Weak transcription	Hela-S3	cervix
23	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:43681000-43696600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:43681000-43703000	Weak transcription	HSMM	muscle
26	chr5:43683600-43696600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:43684000-43701200	Weak transcription	HSMMtube	muscle
28	chr5:43684200-43695800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:43684200-43696600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:43684200-43699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:43684200-43702800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:43684200-43715400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:43684600-43697800	Weak transcription	Psoas Muscle	Psoas
34	chr5:43684800-43714600	Weak transcription	Aorta	Aorta
35	chr5:43685400-43695600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:43685800-43705800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:43686000-43696600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:43686000-43702200	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:43686000-43703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:43686000-43703000	Weak transcription	Brain Anterior Caudate	brain
41	chr5:43686200-43711400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:43686400-43701000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:43687200-43696400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:43687600-43695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:43688000-43702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:43688400-43702800	Weak transcription	NHDF-Ad	bronchial
47	chr5:43693400-43696400	Weak transcription	Fetal Brain Female	brain
48	chr5:43693400-43696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:43693800-43699600	Weak transcription	Fetal Lung	lung
50	chr5:43694000-43697000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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