Variant report

Variant	rs8004904
Chromosome Location	chr14:65433717-65433718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65433037..65434817-chr14:65446366..65448711,2	MCF-7	breast:
2	chr14:65428039..65432050-chr14:65432116..65435145,5	MCF-7	breast:
3	chr14:65424121..65427590-chr14:65430879..65434090,3	MCF-7	breast:
4	chr14:65433002..65436926-chr14:65451032..65453686,3	MCF-7	breast:
5	chr14:65380772..65382817-chr14:65433113..65436626,3	MCF-7	breast:
6	chr14:65432320..65436010-chr14:65436140..65441261,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11623886	0.80[EUR][1000 genomes]
rs2412105	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412106	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34852276	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899155	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899158	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359095	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007405	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8009893	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8010391	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33119	chr14:65421491-65434429	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv11173	chr14:65432340-65438052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs8004904	CHURC1	cis	Esophagus Muscularis	GTEx
rs8004904	CHURC1	cis	Thyroid	GTEx
rs8004904	CHURC1	cis	lung	GTEx
rs8004904	CHURC1	cis	Adipose Subcutaneous	GTEx
rs8004904	CHURC1	cis	Nerve Tibial	GTEx
rs8004904	CHURC1	cis	Muscle Skeletal	GTEx
rs8004904	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs8004904	CHURC1	cis	Whole Blood	GTEx
rs8004904	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs8004904	CHURC1	cis	Esophagus Mucosa	GTEx
rs8004904	CHURC1	cis	Heart Left Ventricle	GTEx
rs8004904	CHURC1	cis	Artery Tibial	GTEx
rs8004904	CHURC1	cis	Artery Aorta	GTEx
rs8004904	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65401600-65435000	Weak transcription	NH-A	brain
2	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
3	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
4	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
7	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
9	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
10	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
11	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:65420800-65437400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:65422800-65437600	Weak transcription	Spleen	Spleen
22	chr14:65423400-65436800	Weak transcription	Dnd41	blood
23	chr14:65424000-65436800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:65427800-65435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:65427800-65435000	Weak transcription	HSMM	muscle
27	chr14:65427800-65435200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:65427800-65437000	Weak transcription	Thymus	Thymus
29	chr14:65427800-65437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:65428000-65434400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:65428000-65434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:65428000-65434600	Weak transcription	Brain Germinal Matrix	brain
33	chr14:65428000-65435000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:65428000-65435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:65428000-65435200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:65428000-65435200	Weak transcription	A549	lung
37	chr14:65428000-65435400	Weak transcription	Fetal Thymus	thymus
38	chr14:65428000-65436800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:65428000-65437000	Weak transcription	HepG2	liver
40	chr14:65428000-65437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:65428000-65437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:65428200-65434600	Weak transcription	HSMMtube	muscle
43	chr14:65428200-65435000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:65428400-65434400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:65428400-65434400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:65428400-65435000	Weak transcription	Psoas Muscle	Psoas
47	chr14:65428400-65436600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:65428400-65437000	Weak transcription	Right Atrium	heart
49	chr14:65428600-65433800	Weak transcription	Brain Angular Gyrus	brain
50	chr14:65428600-65434600	Weak transcription	Fetal Muscle Leg	muscle

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