Variant report

Variant	rs34270587
Chromosome Location	chr16:70341369-70341370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70319890..70322761-chr16:70339573..70342006,2	K562	blood:
2	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 36 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1134074	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12149396	0.81[AMR][1000 genomes]
rs28733806	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34087264	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35567919	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35676543	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35878591	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4985409	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4985525	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4985526	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55936521	0.81[AMR][1000 genomes]
rs62049419	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66627085	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790692	0.82[AFR][1000 genomes];0.83[AMR][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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:36)

SNP	Gene	Cis/trans	Tissue	Source
rs34270587	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs34270587	PDXDC2P	cis	lung	GTEx
rs34270587	CLEC18A	cis	lung	GTEx
rs34270587	CLEC18A	cis	Whole Blood	GTEx
rs34270587	CLEC18A	cis	Artery Aorta	GTEx
rs34270587	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs34270587	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs34270587	RP11-296I10.6	cis	lung	GTEx
rs34270587	CLEC18A	cis	Artery Tibial	GTEx
rs34270587	RP11-419C5.2	cis	lung	GTEx
rs34270587	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs34270587	CLEC18A	cis	Muscle Skeletal	GTEx
rs34270587	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs34270587	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs34270587	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs34270587	CLEC18C	cis	Whole Blood	GTEx
rs34270587	CLEC18A	cis	Esophagus Mucosa	GTEx
rs34270587	EXOSC6	cis	Muscle Skeletal	GTEx
rs34270587	EXOSC6	cis	Artery Tibial	GTEx
rs34270587	EXOSC6	cis	Whole Blood	GTEx
rs34270587	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs34270587	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs34270587	CLEC18C	cis	Artery Tibial	GTEx
rs34270587	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs34270587	CLEC18A	cis	Thyroid	GTEx
rs34270587	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs34270587	PDXDC2P	cis	Muscle Skeletal	GTEx
rs34270587	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs34270587	RP11-419C5.2	cis	Thyroid	GTEx
rs34270587	CLEC18C	cis	lung	GTEx
rs34270587	PDXDC2P	cis	Thyroid	GTEx
rs34270587	RP11-296I10.6	cis	Artery Tibial	GTEx
rs34270587	CLEC18A	cis	Stomach	GTEx
rs34270587	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs34270587	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs34270587	PDXDC2P	cis	Nerve Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70343800	Weak transcription	Lung	lung
2	chr16:70333800-70348800	Weak transcription	Placenta	Placenta
3	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:70333800-70350200	Weak transcription	Gastric	stomach
5	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
6	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
7	chr16:70334000-70348800	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
13	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:70334000-70349800	Weak transcription	Ovary	ovary
18	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
19	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
21	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
23	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
27	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
29	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:70335200-70344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:70335200-70347000	Weak transcription	Adipose Nuclei	Adipose
33	chr16:70335200-70348800	Weak transcription	Brain Angular Gyrus	brain
34	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
37	chr16:70335400-70347200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:70335400-70349200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:70335400-70349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr16:70335400-70349400	Weak transcription	Brain Anterior Caudate	brain
41	chr16:70335400-70349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:70335400-70349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:70335400-70349800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr16:70335400-70349800	Weak transcription	HSMM	muscle
45	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:70335600-70349400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:70335600-70349400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:70335600-70349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:70335600-70349800	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:70335800-70344600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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