Variant report

Variant	rs8028284
Chromosome Location	chr15:82540174-82540175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82540150..82542827-chr15:82551322..82553905,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1128431	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.80[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11852244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11854157	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11855145	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11856561	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs11856590	0.91[ASN][1000 genomes]
rs16973420	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17354842	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2292071	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.80[MKK][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs28529095	0.83[ASN][1000 genomes]
rs28539162	0.85[ASN][1000 genomes]
rs28578791	0.82[ASN][1000 genomes]
rs28752301	0.97[ASN][1000 genomes]
rs28754625	0.86[ASN][1000 genomes]
rs28883606	0.81[ASN][1000 genomes]
rs3973890	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4725	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4778983	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55914836	0.84[ASN][1000 genomes]
rs56394250	0.91[ASN][1000 genomes]
rs57014042	0.86[ASN][1000 genomes]
rs60855901	0.84[ASN][1000 genomes]
rs61203524	0.81[ASN][1000 genomes]
rs6495644	0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs66672254	0.82[ASN][1000 genomes]
rs66701409	0.84[ASN][1000 genomes]
rs67988426	0.95[ASN][1000 genomes]
rs71156029	0.83[ASN][1000 genomes]
rs73451393	0.80[ASN][1000 genomes]
rs8023960	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs8032033	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs8034586	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs8040160	0.84[ASN][1000 genomes]
rs9920827	0.87[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv570246	chr15:82485707-82581264	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1041506	chr15:82496164-82581427	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1798145	chr15:82506790-82581264	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv904441	chr15:82532963-82580736	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv516603	chr15:82537354-82540174	Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv457214	chr15:82537354-82540174	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv457215	chr15:82537354-82540174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv570247	chr15:82537354-82540174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv904442	chr15:82540174-82571046	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8028284	EFTUD1	cis	lymphoblastoid	seeQTL
rs8028284	BTBD1	cis	cerebellum	SCAN
rs8028284	RASGRF1	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:82499000-82550800	Weak transcription	HUVEC	blood vessel
5	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:82501800-82544600	Weak transcription	Brain Angular Gyrus	brain
7	chr15:82503000-82542200	Weak transcription	Stomach Mucosa	stomach
8	chr15:82503200-82552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:82503600-82553000	Weak transcription	Small Intestine	intestine
10	chr15:82503800-82553200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:82504200-82553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:82507400-82553000	Weak transcription	NH-A	brain
13	chr15:82508200-82553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:82510800-82554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:82511800-82554200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:82515800-82553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:82520000-82553000	Weak transcription	Gastric	stomach
18	chr15:82520000-82553000	Weak transcription	Right Ventricle	heart
19	chr15:82520000-82553400	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:82520000-82554200	Weak transcription	Pancreas	Pancrea
21	chr15:82520200-82553000	Weak transcription	Psoas Muscle	Psoas
22	chr15:82520200-82554400	Weak transcription	Esophagus	oesophagus
23	chr15:82523000-82550000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:82523600-82553400	Weak transcription	Fetal Kidney	kidney
25	chr15:82524000-82545400	Weak transcription	Fetal Intestine Small	intestine
26	chr15:82524800-82552600	Weak transcription	K562	blood
27	chr15:82531800-82543200	Weak transcription	Fetal Stomach	stomach
28	chr15:82532000-82554000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:82532400-82549800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:82532600-82543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:82532600-82550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:82532600-82552800	Weak transcription	Fetal Brain Female	brain
33	chr15:82532600-82553400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:82532800-82550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr15:82532800-82550600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:82533000-82543200	Weak transcription	Placenta	Placenta
37	chr15:82533000-82544400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:82533000-82553000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:82533000-82553400	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:82533200-82540800	Weak transcription	NHDF-Ad	bronchial
41	chr15:82533200-82545600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:82533200-82545600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:82533200-82550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:82533200-82552200	Weak transcription	Fetal Brain Male	brain
45	chr15:82533200-82553000	Weak transcription	NHLF	lung
46	chr15:82533200-82553200	Weak transcription	Brain Germinal Matrix	brain
47	chr15:82533200-82553200	Weak transcription	A549	lung
48	chr15:82533200-82553600	Weak transcription	Fetal Lung	lung
49	chr15:82533400-82543000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:82533400-82544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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