Variant report

Variant	rs3018534
Chromosome Location	chr8:103294279-103294280
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103292940..103295048-chr8:103868980..103871435,2	K562	blood:
2	chr8:103292030..103294873-chr8:103298040..103300852,2	MCF-7	breast:
3	chr8:103289581..103292045-chr8:103294238..103296259,2	MCF-7	breast:
4	chr8:103265116..103266649-chr8:103292317..103294443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088255	0.82[EUR][1000 genomes]
rs10098586	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10109588	0.83[EUR][1000 genomes]
rs12114277	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2445948	0.84[EUR][1000 genomes]
rs2445949	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445953	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512408	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512409	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512412	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2607662	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2853233	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2853238	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36027049	0.81[EUR][1000 genomes]
rs4617126	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62523061	0.82[ASN][1000 genomes]
rs6468826	0.83[EUR][1000 genomes]
rs6987733	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7001644	0.82[EUR][1000 genomes]
rs7827839	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:103262800-103299600	Strong transcription	HSMM	muscle
12	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:103263000-103299000	Strong transcription	Liver	Liver
14	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
15	chr8:103263200-103298800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:103263400-103295600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:103263400-103298200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103263400-103299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:103263400-103299000	Strong transcription	Dnd41	blood
20	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:103264000-103299000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:103264200-103299000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:103264800-103298800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:103266200-103299400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr8:103268200-103298400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
35	chr8:103269400-103299200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:103271800-103294400	Strong transcription	Left Ventricle	heart
37	chr8:103272800-103297000	Weak transcription	Small Intestine	intestine
38	chr8:103275800-103294600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:103275800-103299600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:103279600-103297000	Weak transcription	Esophagus	oesophagus
41	chr8:103280600-103297200	Weak transcription	Pancreas	Pancrea
42	chr8:103281200-103299400	Strong transcription	Primary B cells from cord blood	blood
43	chr8:103282400-103299800	Weak transcription	Stomach Mucosa	stomach
44	chr8:103282600-103299600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:103284800-103299600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:103286000-103294600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:103286000-103299600	Strong transcription	NHDF-Ad	bronchial
48	chr8:103286200-103300000	Strong transcription	HepG2	liver
49	chr8:103286400-103294400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:103286400-103299400	Strong transcription	Adipose Nuclei	Adipose

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