Variant report

Variant	rs74030948
Chromosome Location	chr15:82505719-82505720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10152239	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10152266	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152695	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439569	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439679	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442609	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12442655	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12442862	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380011	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715426	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57264750	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57598148	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58227679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58303451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60341871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60439528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61094688	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61413136	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61433916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167816	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74030944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74030949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972386	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs74030948	FAM154B	cis	Muscle Skeletal	GTEx
rs74030948	FAM154B	cis	Heart Left Ventricle	GTEx
rs74030948	FAM154B	cis	Artery Tibial	GTEx
rs74030948	FAM154B	cis	Whole Blood	GTEx
rs74030948	FAM154B	cis	Thyroid	GTEx

Chromatin state (count:110 , 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	chr15:82456800-82509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:82462000-82505800	Weak transcription	Primary B cells from cord blood	blood
5	chr15:82465000-82510000	Weak transcription	Placenta	Placenta
6	chr15:82471000-82518600	Weak transcription	Right Ventricle	heart
7	chr15:82476000-82519200	Weak transcription	Pancreas	Pancrea
8	chr15:82477000-82510000	Weak transcription	HMEC	breast
9	chr15:82477000-82519200	Weak transcription	HSMMtube	muscle
10	chr15:82477600-82522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:82479800-82510200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:82485800-82510000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:82485800-82510400	Weak transcription	Osteobl	bone
15	chr15:82486000-82520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:82488000-82519200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr15:82488200-82510200	Weak transcription	Left Ventricle	heart
18	chr15:82488200-82531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:82489600-82511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:82490400-82509400	Weak transcription	GM12878-XiMat	blood
21	chr15:82490600-82510000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:82490800-82506400	Weak transcription	HSMM	muscle
23	chr15:82491200-82510000	Weak transcription	Primary T cells from cord blood	blood
24	chr15:82492600-82509800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:82493600-82510000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:82494400-82510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:82494800-82518800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:82495600-82510000	Weak transcription	Fetal Lung	lung
29	chr15:82496000-82510000	Weak transcription	Fetal Thymus	thymus
30	chr15:82496200-82532000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:82496400-82532000	Weak transcription	Fetal Brain Male	brain
32	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:82497600-82511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:82497600-82512400	Weak transcription	Spleen	Spleen
35	chr15:82497600-82536000	Weak transcription	Fetal Heart	heart
36	chr15:82499000-82550800	Weak transcription	HUVEC	blood vessel
37	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:82499600-82505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:82499600-82531400	Weak transcription	Colonic Mucosa	Colon
40	chr15:82500800-82522600	Weak transcription	Brain Anterior Caudate	brain
41	chr15:82501000-82510000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:82501200-82510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:82501200-82518800	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:82501400-82532000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:82501800-82510200	Weak transcription	Brain Germinal Matrix	brain
46	chr15:82501800-82524000	Weak transcription	HepG2	liver
47	chr15:82501800-82544600	Weak transcription	Brain Angular Gyrus	brain
48	chr15:82502000-82510000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:82502400-82507000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:82502400-82513800	Strong transcription	Monocytes-CD14+_RO01746	blood

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