Variant report

Variant	rs8043108
Chromosome Location	chr15:82503649-82503650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1045508	0.89[ASN][1000 genomes]
rs11073035	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1174543	1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1174546	0.81[ASN][1000 genomes]
rs11855089	1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11855144	0.84[ASN][1000 genomes]
rs11857208	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12443224	0.92[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12905578	0.92[ASN][1000 genomes]
rs13380317	0.81[CEU][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13380319	0.81[CEU][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1392976	0.88[ASN][1000 genomes]
rs1501371	0.90[ASN][1000 genomes]
rs1501372	0.81[CEU][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1846910	1.00[YRI][hapmap]
rs1846911	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2047678	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2088858	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28420834	0.85[ASN][1000 genomes]
rs28540744	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2867579	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858954	0.94[ASN][1000 genomes]
rs4270132	0.93[ASN][1000 genomes]
rs4344697	0.94[ASN][1000 genomes]
rs4778982	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495642	0.82[AFR][1000 genomes]
rs6495643	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495647	0.90[ASN][1000 genomes]
rs7164362	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7166570	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169961	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7173339	1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7173852	0.92[ASN][1000 genomes]
rs7176075	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7180584	1.00[YRI][hapmap]
rs7181655	0.82[AFR][1000 genomes]
rs8025353	0.91[ASN][1000 genomes]
rs8033050	1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs8037224	1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8041868	1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041924	0.91[ASN][1000 genomes]
rs8042464	0.81[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs867370	0.84[ASN][1000 genomes]
rs867371	0.84[ASN][1000 genomes]
rs881308	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9944197	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8043108	GOLGA6L10	cis	Esophagus Mucosa	GTEx
rs8043108	RP13-608F4.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:103 , 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	chr15:82456000-82510000	Weak transcription	Thymus	Thymus
3	chr15:82456400-82505400	Weak transcription	Dnd41	blood
4	chr15:82456400-82505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:82456400-82505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:82456800-82509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr15:82458200-82504800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr15:82462000-82505800	Weak transcription	Primary B cells from cord blood	blood
9	chr15:82465000-82510000	Weak transcription	Placenta	Placenta
10	chr15:82471000-82518600	Weak transcription	Right Ventricle	heart
11	chr15:82476000-82519200	Weak transcription	Pancreas	Pancrea
12	chr15:82477000-82510000	Weak transcription	HMEC	breast
13	chr15:82477000-82519200	Weak transcription	HSMMtube	muscle
14	chr15:82477600-82522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:82479800-82510200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:82485800-82510000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:82485800-82510400	Weak transcription	Osteobl	bone
19	chr15:82486000-82520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:82488000-82519200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:82488200-82510200	Weak transcription	Left Ventricle	heart
22	chr15:82488200-82531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:82488600-82505600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:82489600-82511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:82490400-82509400	Weak transcription	GM12878-XiMat	blood
26	chr15:82490600-82510000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:82490800-82506400	Weak transcription	HSMM	muscle
28	chr15:82491200-82510000	Weak transcription	Primary T cells from cord blood	blood
29	chr15:82492200-82503800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:82492600-82509800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:82493600-82510000	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:82494400-82510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:82494800-82518800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:82495600-82510000	Weak transcription	Fetal Lung	lung
35	chr15:82495800-82505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:82496000-82510000	Weak transcription	Fetal Thymus	thymus
37	chr15:82496200-82532000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:82496400-82532000	Weak transcription	Fetal Brain Male	brain
39	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:82497600-82505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:82497600-82511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:82497600-82512400	Weak transcription	Spleen	Spleen
43	chr15:82497600-82536000	Weak transcription	Fetal Heart	heart
44	chr15:82497800-82505400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:82499000-82550800	Weak transcription	HUVEC	blood vessel
46	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:82499600-82505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:82499600-82531400	Weak transcription	Colonic Mucosa	Colon
49	chr15:82500200-82505400	Weak transcription	Liver	Liver
50	chr15:82500800-82522600	Weak transcription	Brain Anterior Caudate	brain

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