Variant report

Variant	rs35038146
Chromosome Location	chr8:52734794-52734795
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13250133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13253956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13263610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263767	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13264394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13267912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13270817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13272813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13274476	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13277070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13279973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17196182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17196300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17196343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17210431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17210466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17282351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34011046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34070508	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34152859	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34424720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34461077	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34724314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34837796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34934450	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34949360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35025549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35098517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35254751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35314611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35448466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35822658	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35918180	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35933421	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36100144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71513545	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71513547	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513550	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71513551	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71513553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71513558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71513559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71513560	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71513562	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71513563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv967589	chr8:52731031-52735145	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35038146	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52717600-52735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:52717600-52741800	Weak transcription	Aorta	Aorta
3	chr8:52718000-52734800	Weak transcription	Dnd41	blood
4	chr8:52719400-52741800	Weak transcription	Esophagus	oesophagus
5	chr8:52720000-52735000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:52720800-52735000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:52720800-52737000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:52721000-52741000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:52722000-52771400	Weak transcription	Gastric	stomach
10	chr8:52722200-52734800	Weak transcription	Lung	lung
11	chr8:52722200-52752000	Weak transcription	Pancreas	Pancrea
12	chr8:52722400-52735000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:52722400-52741800	Weak transcription	Right Ventricle	heart
14	chr8:52722600-52735000	Weak transcription	HSMM	muscle
15	chr8:52722800-52735200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:52722800-52735200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:52722800-52741000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:52722800-52741800	Weak transcription	HSMMtube	muscle
19	chr8:52723000-52741600	Weak transcription	Fetal Heart	heart
20	chr8:52726000-52735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:52726000-52741800	Weak transcription	Brain Substantia Nigra	brain
22	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:52729800-52735000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:52729800-52741600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:52730400-52734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:52731200-52734800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:52731200-52735200	Weak transcription	Spleen	Spleen
29	chr8:52731200-52763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:52731400-52753400	Weak transcription	NHDF-Ad	bronchial
32	chr8:52731800-52741800	Weak transcription	Psoas Muscle	Psoas
33	chr8:52731800-52745600	Weak transcription	NHEK	skin
34	chr8:52732200-52734800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:52732200-52735600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:52732200-52743600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:52732200-52746000	Weak transcription	Fetal Brain Male	brain
38	chr8:52732200-52746400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:52732800-52735800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:52732800-52753600	Weak transcription	Osteobl	bone
41	chr8:52733000-52735600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:52733000-52736000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:52733000-52736000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:52733000-52736000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:52733000-52736000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:52733000-52736000	Strong transcription	Fetal Intestine Large	intestine
47	chr8:52733000-52736200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:52733000-52736200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:52733200-52734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:52733200-52735000	Weak transcription	Placenta	Placenta

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