Variant report

Variant	rs10873179
Chromosome Location	chr14:65427063-65427064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:65426488-65428322	MCF-7	breast:	n/a	chr14:65426954-65426963 chr14:65427960-65427976 chr14:65427936-65427946
2	GATA2	chr14:65426705-65427965	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
2	chr14:65221708..65223520-chr14:65425560..65427904,2	MCF-7	breast:
3	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:
4	chr14:65409296..65411152-chr14:65426645..65429491,2	MCF-7	breast:
5	chr14:65422306..65424138-chr14:65425780..65427345,2	K562	blood:
6	chr14:65426546..65429390-chr14:65452046..65455184,4	MCF-7	breast:
7	chr14:65426410..65429284-chr14:65447447..65450019,2	MCF-7	breast:

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000125954	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000176153	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17102360	0.95[ASN][1000 genomes]
rs3742600	0.95[ASN][1000 genomes]
rs3825644	0.95[ASN][1000 genomes]
rs7157667	0.95[ASN][1000 genomes]
rs942625	0.95[ASN][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10873179	CHURC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65399000-65428000	Weak transcription	NHLF	lung
2	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
3	chr14:65401600-65435000	Weak transcription	NH-A	brain
4	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
5	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
6	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
7	chr14:65411200-65427600	Weak transcription	A549	lung
8	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
11	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:65415400-65432400	Weak transcription	Ovary	ovary
14	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
15	chr14:65415600-65427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
17	chr14:65415800-65427200	Strong transcription	Fetal Intestine Small	intestine
18	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:65416000-65427400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
22	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:65418200-65428200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:65418400-65427400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:65418800-65429400	Weak transcription	Fetal Intestine Large	intestine
28	chr14:65419000-65427800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:65419000-65430400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:65419200-65427600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:65419200-65427600	Weak transcription	Brain Germinal Matrix	brain
36	chr14:65419200-65427600	Weak transcription	Right Ventricle	heart
37	chr14:65419200-65427800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:65419200-65433400	Weak transcription	Lung	lung
39	chr14:65419400-65427400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:65419800-65427200	Weak transcription	Fetal Heart	heart
44	chr14:65420000-65427200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:65420400-65427600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:65420400-65427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:65420400-65427600	Weak transcription	Psoas Muscle	Psoas
49	chr14:65420600-65430000	Weak transcription	GM12878-XiMat	blood
50	chr14:65420800-65430200	Weak transcription	Brain Anterior Caudate	brain

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