Variant report

Variant	rs149319
Chromosome Location	chr5:96025249-96025250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96016371..96018531-chr5:96023831..96025876,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs149313	0.86[JPT][hapmap]
rs26482	0.82[CEU][hapmap];0.81[GIH][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap]
rs26515	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs27852	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4266424	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4590196	0.82[YRI][hapmap]
rs6556938	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7705824	0.81[GIH][hapmap];0.87[MKK][hapmap]
rs7733671	0.81[GIH][hapmap];0.89[MKK][hapmap]
rs9314177	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs149319	CTC-506B8.1	cis	Whole Blood	GTEx
rs149319	GALNT14	trans	brain	seeQTL
rs149319	CAST	cis	lung	GTEx
rs149319	UCMA	trans	brain	seeQTL
rs149319	PRSS48	trans	brain	seeQTL
rs149319	DCDC2	trans	brain	seeQTL
rs149319	CAST	cis	Nerve Tibial	GTEx
rs149319	CAST	cis	parietal	SCAN
rs149319	FBXL13	trans	brain	seeQTL
rs149319	NR2F1	cis	parietal	SCAN
rs149319	WDR64	trans	brain	seeQTL
rs149319	CAST	cis	multi-tissue	Pritchard

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95999400-96038000	Weak transcription	Fetal Stomach	stomach
2	chr5:95999600-96026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:95999600-96028200	Weak transcription	Aorta	Aorta
4	chr5:95999600-96037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:95999600-96038000	Weak transcription	Fetal Lung	lung
6	chr5:96000800-96037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:96001600-96037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:96002400-96027800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:96002400-96037600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:96002400-96038200	Weak transcription	Esophagus	oesophagus
11	chr5:96004800-96028200	Weak transcription	Lung	lung
12	chr5:96004800-96036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:96005000-96038000	Weak transcription	Ovary	ovary
14	chr5:96005000-96038200	Weak transcription	Gastric	stomach
15	chr5:96005600-96027800	Weak transcription	Left Ventricle	heart
16	chr5:96007400-96025400	Weak transcription	Pancreas	Pancrea
17	chr5:96007600-96027800	Weak transcription	Fetal Intestine Large	intestine
18	chr5:96009200-96037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:96012000-96026400	Weak transcription	NHLF	lung
20	chr5:96013000-96037800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:96013600-96031400	Weak transcription	Stomach Mucosa	stomach
22	chr5:96013800-96037600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:96014000-96030800	Weak transcription	HSMM	muscle
24	chr5:96014800-96027400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:96015400-96031800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:96016200-96031600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:96016600-96035200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:96016800-96027200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:96016800-96027200	Weak transcription	HSMMtube	muscle
30	chr5:96016800-96027800	Weak transcription	Right Atrium	heart
31	chr5:96016800-96035000	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:96016800-96038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:96017000-96034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:96017000-96038000	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:96017200-96027600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:96018800-96025600	Weak transcription	Psoas Muscle	Psoas
37	chr5:96018800-96038200	Weak transcription	Colonic Mucosa	Colon
38	chr5:96018800-96038200	Weak transcription	Spleen	Spleen
39	chr5:96019000-96026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:96019000-96031600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:96019400-96026200	Weak transcription	HMEC	breast
42	chr5:96019400-96031600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:96021800-96027800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:96021800-96032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:96022000-96025600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:96022000-96025600	Weak transcription	Placenta	Placenta
47	chr5:96022200-96025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:96022200-96026200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:96022200-96027200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:96022200-96031600	Weak transcription	Primary T cells fromperipheralblood	blood

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