Variant report

Variant	rs34352733
Chromosome Location	chr8:103831508-103831509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103831069..103833953-chr8:103874895..103877224,2	K562	blood:
2	chr8:103829196..103831559-chr8:103833622..103836571,2	MCF-7	breast:
3	chr8:103665222..103669765-chr8:103830121..103834964,5	MCF-7	breast:
4	chr8:103819401..103822063-chr8:103831348..103833645,2	MCF-7	breast:
5	chr8:103830021..103831891-chr8:103831974..103834449,2	K562	blood:
6	chr8:103826760..103829148-chr8:103830331..103832216,2	MCF-7	breast:
7	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1019976	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1062048	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1802539	0.81[ASN][1000 genomes]
rs1897787	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991928	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2247355	0.81[ASN][1000 genomes]
rs2436849	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2436850	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436851	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2436854	0.95[EUR][1000 genomes]
rs2436861	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513876	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513911	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513912	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513915	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513917	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513920	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513923	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513936	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570941	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679745	0.81[ASN][1000 genomes]
rs2679747	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679750	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679753	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2916559	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3018954	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs974758	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34352733	KB-1732A1.1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103822800-103837400	Weak transcription	Gastric	stomach
2	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
5	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
8	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
9	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
10	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
11	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
12	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
13	chr8:103823600-103834800	Weak transcription	Fetal Brain Female	brain
14	chr8:103823600-103837400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:103823800-103831600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:103823800-103837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:103823800-103837800	Weak transcription	NHDF-Ad	bronchial
21	chr8:103824000-103835000	Weak transcription	HSMMtube	muscle
22	chr8:103824000-103835000	Weak transcription	NHEK	skin
23	chr8:103824000-103835200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:103824000-103835200	Weak transcription	NHLF	lung
25	chr8:103824200-103835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:103824200-103836600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:103825600-103832000	Weak transcription	HSMM	muscle
28	chr8:103825600-103837600	Weak transcription	Dnd41	blood
29	chr8:103825600-103841600	Weak transcription	Lung	lung
30	chr8:103825800-103834600	Weak transcription	Osteobl	bone
31	chr8:103825800-103835000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:103825800-103836000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:103825800-103836200	Weak transcription	HMEC	breast
34	chr8:103825800-103837200	Weak transcription	Spleen	Spleen
35	chr8:103825800-103840200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:103826200-103839200	Weak transcription	HUVEC	blood vessel
37	chr8:103826800-103837400	Weak transcription	Colonic Mucosa	Colon
38	chr8:103826800-103837600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:103826800-103841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:103827000-103832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:103827000-103832600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:103827000-103833000	Weak transcription	A549	lung
44	chr8:103827000-103833400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:103827000-103833600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:103827000-103835000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:103827000-103835200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:103827000-103835600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:103827000-103835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:103827000-103835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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