Variant report

Variant	rs12541769
Chromosome Location	chr8:124477548-124477549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124428000..124431810-chr8:124475792..124478285,3	K562	blood:
2	chr8:124477469..124480247-chr8:124481376..124485041,3	MCF-7	breast:
3	chr8:124474211..124477971-chr8:124779164..124781090,3	MCF-7	breast:
4	chr8:124466315..124468864-chr8:124475484..124478441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12541494	0.80[CHD][hapmap]
rs3824254	0.80[CHD][hapmap]
rs6470153	0.80[CHD][hapmap]
rs7341643	0.80[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12541769	C8orf32	cis	multi-tissue	Pritchard
rs12541769	WDYHV1	cis	lymphoblastoid	seeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
2	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
4	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:124454000-124489400	Weak transcription	Gastric	stomach
6	chr8:124454400-124478200	Weak transcription	HSMM	muscle
7	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:124461200-124490200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:124461400-124478200	Weak transcription	Aorta	Aorta
14	chr8:124461400-124482200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:124461600-124477600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:124461600-124486400	Weak transcription	A549	lung
17	chr8:124464000-124478200	Weak transcription	Ovary	ovary
18	chr8:124464200-124477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:124464200-124478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:124464200-124478400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:124464400-124478400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124464400-124483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:124465600-124488800	Weak transcription	Primary T cells from cord blood	blood
24	chr8:124466600-124477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:124467600-124478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:124468600-124478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:124468800-124481000	Weak transcription	NHEK	skin
28	chr8:124469000-124478200	Weak transcription	Adipose Nuclei	Adipose
29	chr8:124469000-124488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:124469200-124488000	Weak transcription	Dnd41	blood
31	chr8:124472800-124477600	Weak transcription	NHDF-Ad	bronchial
32	chr8:124472800-124478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:124472800-124478600	Weak transcription	Fetal Lung	lung
34	chr8:124473000-124478200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:124473000-124478200	Weak transcription	NHLF	lung
36	chr8:124473000-124478200	Weak transcription	Osteobl	bone
37	chr8:124473600-124478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:124473600-124478200	Weak transcription	Left Ventricle	heart
39	chr8:124473600-124480600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:124473600-124481400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:124474200-124483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:124474200-124489000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:124475000-124480400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:124475200-124478600	Weak transcription	Brain Anterior Caudate	brain
45	chr8:124475200-124489400	Weak transcription	Fetal Intestine Small	intestine
46	chr8:124475400-124481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:124475600-124478200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:124475800-124478400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:124476000-124478000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:124476000-124478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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