Variant report

Variant	rs4148498
Chromosome Location	chr13:95826655-95826656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17300865	1.00[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4148498	IL13RA1	trans	lymphoblastoid	seeQTL
rs4148498	FN1	trans	lymphoblastoid	seeQTL
rs4148498	PTGFRN	trans	lymphoblastoid	seeQTL
rs4148498	TOX3	trans	lymphoblastoid	seeQTL
rs4148498	FAM49A	trans	lymphoblastoid	seeQTL
rs4148498	RND3	trans	lymphoblastoid	seeQTL
rs4148498	CCL20	trans	lymphoblastoid	seeQTL
rs4148498	ADARB1	trans	lymphoblastoid	seeQTL
rs4148498	CSTA	trans	lymphoblastoid	seeQTL
rs4148498	FERMT1	trans	lymphoblastoid	seeQTL

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	chr13:95806800-95826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:95807000-95826800	Weak transcription	NH-A	brain
9	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
10	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
11	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
13	chr13:95807400-95827000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:95807400-95828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:95807400-95837800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:95807600-95829000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:95808200-95841800	Weak transcription	Osteobl	bone
18	chr13:95808400-95833400	Weak transcription	Fetal Kidney	kidney
19	chr13:95808400-95854600	Weak transcription	NHEK	skin
20	chr13:95808600-95827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:95808600-95827200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:95809000-95829200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:95810400-95829000	Weak transcription	Adipose Nuclei	Adipose
24	chr13:95810400-95836200	Weak transcription	Fetal Thymus	thymus
25	chr13:95810400-95836400	Weak transcription	Thymus	Thymus
26	chr13:95812400-95831400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:95812800-95826800	Weak transcription	Gastric	stomach
28	chr13:95812800-95833400	Weak transcription	Pancreas	Pancrea
29	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
30	chr13:95814200-95828000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr13:95814600-95832400	Weak transcription	HepG2	liver
32	chr13:95814800-95831200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:95814800-95833400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
36	chr13:95816400-95828000	Weak transcription	Placenta	Placenta
37	chr13:95817000-95830000	Weak transcription	Small Intestine	intestine
38	chr13:95817200-95833400	Weak transcription	Psoas Muscle	Psoas
39	chr13:95817400-95828400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:95817400-95832800	Weak transcription	Stomach Mucosa	stomach
41	chr13:95817600-95828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr13:95818000-95829200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
44	chr13:95818600-95827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:95818600-95830000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:95819000-95827000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:95821800-95826800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:95822000-95827600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:95822000-95827800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:95822000-95828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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