Variant report

Variant	rs34973406
Chromosome Location	chr8:52767491-52767492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10504130	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958300	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958301	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958305	0.94[ASN][1000 genomes]
rs11775587	0.94[ASN][1000 genomes]
rs11775611	0.94[ASN][1000 genomes]
rs11777016	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777714	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778849	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780040	0.98[ASN][1000 genomes]
rs11780891	0.92[AMR][1000 genomes]
rs11781330	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784869	0.94[ASN][1000 genomes]
rs11785805	0.94[ASN][1000 genomes]
rs11786167	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11787229	0.86[ASN][1000 genomes]
rs12675786	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675907	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676345	0.89[ASN][1000 genomes]
rs12676780	0.93[ASN][1000 genomes]
rs12676835	0.94[ASN][1000 genomes]
rs12677407	0.94[ASN][1000 genomes]
rs12678639	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678680	0.85[AMR][1000 genomes]
rs12679287	0.94[ASN][1000 genomes]
rs12679983	0.88[ASN][1000 genomes]
rs12680128	0.88[ASN][1000 genomes]
rs12681203	0.94[ASN][1000 genomes]
rs12681734	0.98[ASN][1000 genomes]
rs13265006	0.98[ASN][1000 genomes]
rs13276400	0.89[ASN][1000 genomes]
rs16916820	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916856	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916906	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16916961	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17212214	0.94[ASN][1000 genomes]
rs17212256	0.94[ASN][1000 genomes]
rs17284746	0.94[ASN][1000 genomes]
rs2037138	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2037139	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069119	0.89[ASN][1000 genomes]
rs2176120	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34058697	0.95[ASN][1000 genomes]
rs34073804	0.90[ASN][1000 genomes]
rs34213209	0.89[ASN][1000 genomes]
rs34319820	0.90[ASN][1000 genomes]
rs34364864	1.00[ASN][1000 genomes]
rs34372756	0.94[ASN][1000 genomes]
rs34677273	0.94[ASN][1000 genomes]
rs35032384	0.94[ASN][1000 genomes]
rs35509250	0.89[ASN][1000 genomes]
rs35603537	0.89[ASN][1000 genomes]
rs41453644	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4292674	0.88[ASN][1000 genomes]
rs4321994	0.87[ASN][1000 genomes]
rs4534123	0.88[ASN][1000 genomes]
rs4598243	0.96[ASN][1000 genomes]
rs4626585	0.88[ASN][1000 genomes]
rs57212480	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58561048	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583070	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59602923	0.94[ASN][1000 genomes]
rs60153173	0.90[ASN][1000 genomes]
rs60304457	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60796336	0.94[ASN][1000 genomes]
rs61326367	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6994203	0.90[ASN][1000 genomes]
rs71513549	0.88[ASN][1000 genomes]
rs71513552	0.90[ASN][1000 genomes]
rs71513561	0.98[ASN][1000 genomes]
rs71513564	0.94[ASN][1000 genomes]
rs763550	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650179	0.94[ASN][1000 genomes]
rs9650180	0.94[ASN][1000 genomes]
rs9650305	0.94[ASN][1000 genomes]
rs9792352	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34973406	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52722000-52771400	Weak transcription	Gastric	stomach
2	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
5	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:52739800-52782600	Weak transcription	K562	blood
7	chr8:52743000-52771400	Weak transcription	HepG2	liver
8	chr8:52743400-52771400	Weak transcription	Esophagus	oesophagus
9	chr8:52744000-52768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:52744000-52771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:52744000-52771400	Weak transcription	Fetal Brain Female	brain
12	chr8:52744200-52770800	Weak transcription	Placenta	Placenta
13	chr8:52744400-52768600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:52744600-52769000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:52744600-52769200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:52745600-52768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:52745800-52769400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:52751000-52768000	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:52751200-52771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:52752400-52768000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:52752400-52771200	Weak transcription	Fetal Heart	heart
22	chr8:52754200-52771400	Weak transcription	NHLF	lung
23	chr8:52755000-52769000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:52757400-52769400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:52757400-52770600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:52757600-52768800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:52757600-52769200	Weak transcription	Osteobl	bone
28	chr8:52757600-52771400	Weak transcription	HSMM	muscle
29	chr8:52758400-52770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:52759000-52786200	Weak transcription	Lung	lung
31	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
32	chr8:52760200-52769400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:52760600-52769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:52762800-52768000	Weak transcription	Dnd41	blood
35	chr8:52762800-52768800	Weak transcription	A549	lung
36	chr8:52762800-52769000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:52762800-52769600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:52763600-52769000	Weak transcription	Primary B cells from cord blood	blood
39	chr8:52763800-52771400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:52763800-52772600	Weak transcription	Fetal Kidney	kidney
41	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:52764000-52768800	Weak transcription	Primary T cells from cord blood	blood
43	chr8:52764000-52768800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:52764000-52768800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:52764000-52769000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:52764000-52769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:52764000-52770400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:52764000-52771000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:52764000-52774600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:52764000-52779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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