Variant report

Variant	rs8030210
Chromosome Location	chr15:82519384-82519385
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	chr15:82514202..82516505-chr15:82518442..82521206,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11073036	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630197	0.90[ASN][1000 genomes]
rs11631813	0.92[ASN][1000 genomes]
rs11854289	0.81[ASN][1000 genomes]
rs11854483	0.81[ASN][1000 genomes]
rs12324875	0.94[ASN][1000 genomes]
rs1501367	0.89[ASN][1000 genomes]
rs1566559	0.88[ASN][1000 genomes]
rs1566560	0.88[ASN][1000 genomes]
rs1566561	0.94[ASN][1000 genomes]
rs16973457	0.81[ASN][1000 genomes]
rs1846908	0.88[ASN][1000 genomes]
rs1948741	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1948742	0.99[ASN][1000 genomes]
rs1972460	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2016372	0.95[ASN][1000 genomes]
rs2047679	0.88[ASN][1000 genomes]
rs2134046	0.92[ASN][1000 genomes]
rs2457497	0.81[ASN][1000 genomes]
rs28454949	0.87[ASN][1000 genomes]
rs28522807	0.81[ASN][1000 genomes]
rs28610286	0.82[ASN][1000 genomes]
rs3759800	0.88[ASN][1000 genomes]
rs3858953	0.93[ASN][1000 genomes]
rs3902959	0.88[ASN][1000 genomes]
rs4238534	0.92[ASN][1000 genomes]
rs4267268	0.93[ASN][1000 genomes]
rs4296215	0.92[ASN][1000 genomes]
rs4778986	0.94[ASN][1000 genomes]
rs4778987	0.94[ASN][1000 genomes]
rs56398167	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61554133	0.92[ASN][1000 genomes]
rs7167504	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176926	0.88[ASN][1000 genomes]
rs72749540	0.91[ASN][1000 genomes]
rs72749557	0.92[ASN][1000 genomes]
rs72749560	0.92[ASN][1000 genomes]
rs72749561	0.92[ASN][1000 genomes]
rs72749564	0.93[ASN][1000 genomes]
rs72749575	0.95[ASN][1000 genomes]
rs72749586	0.95[ASN][1000 genomes]
rs8025964	0.98[ASN][1000 genomes]
rs8027301	0.92[ASN][1000 genomes]
rs8027661	0.92[ASN][1000 genomes]
rs8030250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033313	0.94[ASN][1000 genomes]
rs905450	0.88[ASN][1000 genomes]
rs9972440	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv976956	chr15:82491360-82521554	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	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
11	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8030210	RP13-996F3.5	cis	Esophagus Mucosa	GTEx
rs8030210	FLJ40113///LOC161527///LOC440295///LOC642346	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr15:82477600-82522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:82486000-82520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:82488200-82531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:82496200-82532000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:82496400-82532000	Weak transcription	Fetal Brain Male	brain
8	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:82497600-82536000	Weak transcription	Fetal Heart	heart
10	chr15:82499000-82550800	Weak transcription	HUVEC	blood vessel
11	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:82499600-82531400	Weak transcription	Colonic Mucosa	Colon
13	chr15:82500800-82522600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:82501400-82532000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:82501800-82524000	Weak transcription	HepG2	liver
16	chr15:82501800-82544600	Weak transcription	Brain Angular Gyrus	brain
17	chr15:82503000-82531800	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:82503000-82531800	Weak transcription	NHDF-Ad	bronchial
19	chr15:82503000-82531800	Weak transcription	NHLF	lung
20	chr15:82503000-82542200	Weak transcription	Stomach Mucosa	stomach
21	chr15:82503200-82519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:82503200-82552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:82503600-82553000	Weak transcription	Small Intestine	intestine
24	chr15:82503800-82553200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:82504200-82553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:82504400-82522800	Weak transcription	Fetal Kidney	kidney
27	chr15:82505200-82531200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:82507400-82553000	Weak transcription	NH-A	brain
29	chr15:82508200-82553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:82510400-82519400	Weak transcription	Primary B cells from cord blood	blood
31	chr15:82510400-82526000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:82510600-82519600	Weak transcription	Aorta	Aorta
33	chr15:82510600-82519600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:82510600-82531200	Weak transcription	Brain Substantia Nigra	brain
35	chr15:82510600-82532600	Weak transcription	Ovary	ovary
36	chr15:82510800-82520800	Weak transcription	GM12878-XiMat	blood
37	chr15:82510800-82524200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:82510800-82531200	Weak transcription	Fetal Lung	lung
39	chr15:82510800-82554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:82511000-82529200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:82511800-82523800	Weak transcription	Fetal Intestine Small	intestine
42	chr15:82511800-82530400	Weak transcription	Left Ventricle	heart
43	chr15:82511800-82534800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:82511800-82554200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:82512000-82519400	Weak transcription	Thymus	Thymus
46	chr15:82512000-82519600	Weak transcription	Lung	lung
47	chr15:82512000-82530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:82512200-82522800	Weak transcription	K562	blood
49	chr15:82512200-82531200	Weak transcription	Fetal Stomach	stomach
50	chr15:82512200-82531800	Weak transcription	Brain Germinal Matrix	brain

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