Variant report

Variant	rs1751003
Chromosome Location	chr13:95826869-95826870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1617844	0.85[CHB][hapmap]
rs1751004	0.99[ASN][1000 genomes]
rs1751008	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap]
rs1751014	0.85[CHB][hapmap]
rs1751029	0.85[CHB][hapmap]
rs2148529	0.85[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2478461	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2766474	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1751003	TGDS	cis	cerebellum	SCAN
rs1751003	MBNL2	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95756400-95828200	Weak transcription	HSMM	muscle
3	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
4	chr13:95782000-95828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:95787800-95827200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr13:95799200-95833400	Weak transcription	HSMMtube	muscle
7	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
8	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
9	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
11	chr13:95807400-95827000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:95807400-95828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:95807400-95837800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:95807600-95829000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:95808200-95841800	Weak transcription	Osteobl	bone
16	chr13:95808400-95833400	Weak transcription	Fetal Kidney	kidney
17	chr13:95808400-95854600	Weak transcription	NHEK	skin
18	chr13:95808600-95827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:95808600-95827200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:95809000-95829200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:95810400-95829000	Weak transcription	Adipose Nuclei	Adipose
22	chr13:95810400-95836200	Weak transcription	Fetal Thymus	thymus
23	chr13:95810400-95836400	Weak transcription	Thymus	Thymus
24	chr13:95812400-95831400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:95812800-95833400	Weak transcription	Pancreas	Pancrea
26	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
27	chr13:95814200-95828000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr13:95814600-95832400	Weak transcription	HepG2	liver
29	chr13:95814800-95831200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:95814800-95833400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
33	chr13:95816400-95828000	Weak transcription	Placenta	Placenta
34	chr13:95817000-95830000	Weak transcription	Small Intestine	intestine
35	chr13:95817200-95833400	Weak transcription	Psoas Muscle	Psoas
36	chr13:95817400-95828400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:95817400-95832800	Weak transcription	Stomach Mucosa	stomach
38	chr13:95817600-95828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:95818000-95829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
41	chr13:95818600-95827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:95818600-95830000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:95819000-95827000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:95822000-95827600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr13:95822000-95827800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:95822000-95828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:95822000-95829800	Weak transcription	Ovary	ovary
48	chr13:95822000-95834600	Weak transcription	Fetal Stomach	stomach
49	chr13:95822000-95837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:95822200-95828200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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