Variant report

Variant	rs12185102
Chromosome Location	chr15:75352201-75352202
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	chr15:75351256..75353866-chr15:75357532..75359933,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12185077	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12185078	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12324912	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12591119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591175	0.82[YRI][hapmap]
rs12708514	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12898259	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901243	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12903201	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12910644	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13056	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867150	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2083731	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2120019	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2120020	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2289582	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2304903	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2415253	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415254	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2415255	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34237279	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34655806	0.93[ASN][1000 genomes]
rs34713999	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34835684	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34913788	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35577967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35736167	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35911108	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3850093	0.92[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5020842	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs59094290	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60425110	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495147	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67324798	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67538199	0.85[ASN][1000 genomes]
rs67544533	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162900	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167285	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7168680	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173833	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175720	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028632	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8030089	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8033837	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033925	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8036197	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8040169	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042409	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672995	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12185102	SCAMP5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75337200-75353600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:75340000-75353400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:75340000-75353400	Weak transcription	NHDF-Ad	bronchial
4	chr15:75340000-75360600	Weak transcription	Gastric	stomach
5	chr15:75340200-75353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:75340200-75353600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:75340200-75359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:75340400-75353800	Weak transcription	Liver	Liver
9	chr15:75340800-75357600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:75341000-75356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:75341200-75357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:75342000-75357200	Weak transcription	Small Intestine	intestine
13	chr15:75342200-75357600	Weak transcription	Aorta	Aorta
14	chr15:75342400-75357400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:75342600-75353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:75342600-75357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:75342600-75357600	Weak transcription	Hela-S3	cervix
18	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
19	chr15:75342800-75357400	Weak transcription	Thymus	Thymus
20	chr15:75342800-75361600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:75343000-75354000	Weak transcription	Brain Angular Gyrus	brain
22	chr15:75343000-75354600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:75343200-75357400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:75343800-75353600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:75344000-75353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:75344000-75354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:75344200-75353800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:75344400-75355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:75344600-75354400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:75346400-75353800	Weak transcription	Colonic Mucosa	Colon
31	chr15:75346400-75353800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:75346400-75361600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:75347000-75352600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:75347000-75356200	Weak transcription	Ovary	ovary
35	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
36	chr15:75347200-75354000	Weak transcription	Brain Anterior Caudate	brain
37	chr15:75348000-75353400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:75349000-75353000	Weak transcription	GM12878-XiMat	blood
39	chr15:75350600-75357000	Weak transcription	Adipose Nuclei	Adipose
40	chr15:75351000-75353200	Weak transcription	Osteobl	bone
41	chr15:75351000-75353400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:75351000-75353600	Weak transcription	Right Atrium	heart
43	chr15:75351000-75354400	Weak transcription	Lung	lung
44	chr15:75351000-75355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:75351000-75357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:75351000-75358200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:75351200-75353000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:75351200-75353000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr15:75351200-75353200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:75351200-75353400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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