Variant report

Variant	rs2791349
Chromosome Location	chr8:131345906-131345907
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131338191..131341349-chr8:131343744..131346974,4	K562	blood:
2	chr8:131344499..131346879-chr8:131349308..131351195,2	K562	blood:
3	chr8:131336874..131339691-chr8:131343974..131346537,3	K562	blood:
4	chr8:131345122..131348664-chr8:131349728..131353324,3	K562	blood:
5	chr8:131344750..131346449-chr8:131358677..131360366,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10086454	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10087626	0.81[ASN][1000 genomes]
rs1008819	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10090106	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10090231	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs10090767	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs10099549	0.87[CEU][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10099586	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10103132	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10107054	0.81[EUR][1000 genomes]
rs10111650	0.85[ASN][1000 genomes]
rs10956520	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10956522	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956523	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11984909	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11992217	0.85[ASN][1000 genomes]
rs11992885	0.84[EUR][1000 genomes]
rs11992932	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs11992957	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11993714	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs11993741	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs11997462	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs12546206	0.90[LWK][hapmap]
rs12678030	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12678062	0.87[EUR][1000 genomes]
rs12678808	0.83[ASN][1000 genomes]
rs12680178	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680697	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13249894	0.87[EUR][1000 genomes]
rs13253189	0.86[LWK][hapmap]
rs13255178	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs13260346	0.84[CEU][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13275147	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13275883	0.93[ASN][1000 genomes]
rs13276168	0.87[EUR][1000 genomes]
rs1340020	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904260	0.83[CEU][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16904268	0.86[EUR][1000 genomes]
rs17287702	0.84[CEU][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1978551	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2670873	0.85[LWK][hapmap]
rs2791346	0.89[CEU][hapmap];0.81[GIH][hapmap];0.80[EUR][1000 genomes]
rs28545757	0.85[ASN][1000 genomes]
rs28559741	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28562521	0.86[EUR][1000 genomes]
rs28707621	0.85[EUR][1000 genomes]
rs28716119	0.85[EUR][1000 genomes]
rs2994298	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs34003529	0.86[EUR][1000 genomes]
rs34019017	0.86[EUR][1000 genomes]
rs34188408	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34542318	0.85[EUR][1000 genomes]
rs34676374	0.86[EUR][1000 genomes]
rs34737610	0.85[EUR][1000 genomes]
rs34987314	0.86[EUR][1000 genomes]
rs35229803	0.86[EUR][1000 genomes]
rs35592532	0.84[EUR][1000 genomes]
rs4574884	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4609234	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs56677646	0.84[EUR][1000 genomes]
rs6984815	0.95[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap]
rs6986119	0.86[EUR][1000 genomes]
rs6986163	0.86[EUR][1000 genomes]
rs6990443	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7011509	0.90[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs7014098	0.84[CEU][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7016144	0.90[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs7812299	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs7812469	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs7822957	0.85[EUR][1000 genomes]
rs7823146	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7828824	0.88[EUR][1000 genomes]
rs7838650	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844582	0.83[CEU][hapmap];0.90[JPT][hapmap];0.91[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2791349	LEPREL1	trans	lymphoblastoid	seeQTL
rs2791349	OAS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
4	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
7	chr8:131336200-131347800	Weak transcription	Liver	Liver
8	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
10	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:131337400-131346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131337400-131346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:131339200-131346200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:131339600-131346000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:131339600-131346000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:131339600-131351000	Weak transcription	Lung	lung
22	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:131339800-131346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:131339800-131346000	Weak transcription	Fetal Thymus	thymus
25	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
26	chr8:131340400-131346000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:131341000-131346600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:131341000-131350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:131341200-131349000	Enhancers	Fetal Heart	heart
31	chr8:131341400-131346000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:131342600-131346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:131342600-131346000	Weak transcription	Brain Angular Gyrus	brain
34	chr8:131342600-131346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:131342800-131346000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:131342800-131346000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:131342800-131346800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:131342800-131347000	Weak transcription	Fetal Kidney	kidney
40	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
41	chr8:131343000-131346000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:131343000-131346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:131343000-131346800	Weak transcription	GM12878-XiMat	blood
44	chr8:131343000-131350800	Weak transcription	HepG2	liver
45	chr8:131343000-131351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:131343000-131351000	Weak transcription	HMEC	breast
47	chr8:131343400-131346400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:131343400-131347400	Weak transcription	Fetal Stomach	stomach
49	chr8:131343400-131347400	Weak transcription	NHEK	skin
50	chr8:131343400-131349000	Enhancers	Brain Germinal Matrix	brain

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