Variant report

Variant	rs11846925
Chromosome Location	chr14:65435875-65435876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65435373..65439522-chr14:65449572..65455038,8	MCF-7	breast:
2	chr14:65408109..65412260-chr14:65433845..65436986,6	MCF-7	breast:
3	chr14:64804135..64806970-chr14:65434960..65437398,2	MCF-7	breast:
4	chr14:65435007..65437105-chr14:65446838..65448474,2	MCF-7	breast:
5	chr14:65435316..65436014-chr14:65450894..65451775,2	MCF-7	breast:
6	chr14:65433002..65436926-chr14:65451032..65453686,3	MCF-7	breast:
7	chr14:65380772..65382817-chr14:65433113..65436626,3	MCF-7	breast:
8	chr14:65432320..65436010-chr14:65436140..65441261,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction
ENSG00000176153	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2412104	0.89[AFR][1000 genomes]
rs4899158	0.80[MEX][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	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:18)

SNP	Gene	Cis/trans	Tissue	Source
rs11846925	CHURC1	cis	Muscle Skeletal	GTEx
rs11846925	CHURC1	cis	Thyroid	GTEx
rs11846925	RAB15	cis	cerebellum	SCAN
rs11846925	CHURC1	cis	multi-tissue	Pritchard
rs11846925	CHURC1	cis	Temporal Cortex	GTEx
rs11846925	PLEKHG3	cis	cerebellum	SCAN
rs11846925	CHURC1	cis	Artery Tibial	GTEx
rs11846925	CHURC1	cis	Esophagus Muscularis	GTEx
rs11846925	CHURC1	cis	lymphoblastoid	seeQTL
rs11846925	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs11846925	CHURC1	cis	Artery Aorta	GTEx
rs11846925	CHURC1	cis	Adipose Subcutaneous	GTEx
rs11846925	CHURC1	cis	Nerve Tibial	GTEx
rs11846925	CHURC1	cis	Whole Blood	GTEx
rs11846925	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs11846925	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs11846925	RAB15	cis	lymphoblastoid	seeQTL
rs11846925	MAX	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
2	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
3	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
4	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
6	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
7	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
8	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:65420800-65437400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:65422800-65437600	Weak transcription	Spleen	Spleen
15	chr14:65423400-65436800	Weak transcription	Dnd41	blood
16	chr14:65424000-65436800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:65427800-65437000	Weak transcription	Thymus	Thymus
19	chr14:65427800-65437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:65428000-65436800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:65428000-65437000	Weak transcription	HepG2	liver
22	chr14:65428000-65437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:65428000-65437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:65428400-65436600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:65428400-65437000	Weak transcription	Right Atrium	heart
26	chr14:65428600-65437600	Weak transcription	Liver	Liver
27	chr14:65429200-65436800	Weak transcription	Fetal Brain Female	brain
28	chr14:65431600-65436000	Enhancers	Placenta	Placenta
29	chr14:65433000-65436400	Weak transcription	Fetal Heart	heart
30	chr14:65433000-65437400	Weak transcription	HUVEC	blood vessel
31	chr14:65433000-65437800	Weak transcription	Ovary	ovary
32	chr14:65433400-65437800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:65433600-65437800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:65433800-65436800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:65433800-65437000	Weak transcription	Lung	lung
36	chr14:65433800-65437800	Weak transcription	Esophagus	oesophagus
37	chr14:65434000-65436200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:65434000-65437000	Weak transcription	Pancreas	Pancrea
39	chr14:65434000-65437000	Weak transcription	Stomach Mucosa	stomach
40	chr14:65434000-65438000	Weak transcription	Gastric	stomach
41	chr14:65434400-65436000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:65434400-65437200	Weak transcription	Primary T cells from cord blood	blood
43	chr14:65434600-65436000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:65434600-65437000	Enhancers	HSMMtube	muscle
45	chr14:65434600-65437400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:65434600-65437600	Enhancers	Fetal Muscle Leg	muscle
47	chr14:65434800-65436600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:65434800-65436800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:65434800-65437400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:65435000-65436000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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