Variant report

Variant	rs17102318
Chromosome Location	chr14:65381571-65381572
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65380878..65381662-chr4:151936098..151937031,2	HCT-116	colon:
2	chr14:64853920..64855626-chr14:65380962..65383011,2	MCF-7	breast:
3	chr14:65381110..65381620-chr16:81040563..81041145,2	Hela-S3	cervix:
4	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
5	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
6	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
7	chr14:65381095..65382725-chr14:65453656..65455221,2	MCF-7	breast:
8	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
9	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
10	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
11	chr14:65381042..65382655-chr14:65437640..65439751,2	MCF-7	breast:
12	chr14:65381122..65381857-chr6:27115142..27115830,2	Hela-S3	cervix:
13	chr1:224370494..224371298-chr14:65380984..65381699,2	NB4	blood:
14	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:
15	chr1:149223877..149224802-chr14:65381141..65381894,2	NB4	blood:
16	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:
17	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
18	chr1:245027405..245028087-chr14:65380799..65381715,2	Hela-S3	cervix:
19	chr14:65133710..65135609-chr14:65381546..65383750,2	MCF-7	breast:
20	chr14:65381530..65387972-chr14:65390181..65394582,7	K562	blood:
21	chr14:65380374..65382697-chr14:65453453..65455560,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265565	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000273175	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000252497	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000198589	Chromatin interaction
ENSG00000176153	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10138506	0.88[CHD][hapmap]
rs12433745	1.00[JPT][hapmap]
rs2182034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3825644	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs4899144	1.00[JPT][hapmap]
rs4899145	1.00[JPT][hapmap]
rs4902309	1.00[JPT][hapmap]
rs4902310	1.00[JPT][hapmap]
rs4902312	1.00[JPT][hapmap]
rs55796139	1.00[ASN][1000 genomes]
rs7157667	1.00[CHB][hapmap]
rs72726263	0.86[ASN][1000 genomes]
rs72726265	0.86[ASN][1000 genomes]
rs72726266	0.86[ASN][1000 genomes]
rs72726269	1.00[ASN][1000 genomes]
rs72726271	1.00[ASN][1000 genomes]
rs72728205	0.89[ASN][1000 genomes]
rs911002	1.00[JPT][hapmap]
rs942625	1.00[CHB][hapmap];0.87[CHD][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17102318	CHURC1	cis	lymphoblastoid	seeQTL
rs17102318	FNTB	cis	multi-tissue	Pritchard
rs17102318	FNTB	cis	lymphoblastoid	seeQTL
rs17102318	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs17102318	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65380400-65381800	Active TSS	Brain Cingulate Gyrus	brain
2	chr14:65380400-65381800	Active TSS	Stomach Smooth Muscle	stomach
3	chr14:65380400-65382000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:65380400-65382000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65380600-65381600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:65380600-65381800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:65380600-65381800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:65380600-65381800	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr14:65380600-65381800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65380600-65381800	Active TSS	Brain Angular Gyrus	brain
11	chr14:65380600-65381800	Active TSS	Brain Germinal Matrix	brain
12	chr14:65380600-65381800	Active TSS	Brain Hippocampus Middle	brain
13	chr14:65380600-65381800	Active TSS	Brain Substantia Nigra	brain
14	chr14:65380600-65381800	Active TSS	Colon Smooth Muscle	Colon
15	chr14:65380600-65381800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:65380600-65381800	Active TSS	Fetal Brain Male	brain
17	chr14:65380600-65381800	Active TSS	Fetal Kidney	kidney
18	chr14:65380600-65381800	Active TSS	Fetal Muscle Trunk	muscle
19	chr14:65380600-65381800	Active TSS	Fetal Stomach	stomach
20	chr14:65380600-65381800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:65380600-65381800	Active TSS	Right Atrium	heart
22	chr14:65380600-65381800	Active TSS	Right Ventricle	heart
23	chr14:65380600-65382000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:65380600-65382000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:65380600-65382000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:65380600-65382000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:65380600-65382000	Active TSS	Aorta	Aorta
30	chr14:65380600-65382000	Active TSS	Brain Anterior Caudate	brain
31	chr14:65380600-65382000	Active TSS	NHDF-Ad	bronchial
32	chr14:65380600-65382000	Active TSS	NHLF	lung
33	chr14:65380600-65382200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:65380600-65382200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr14:65380600-65382200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:65380600-65382200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:65380600-65382200	Active TSS	Ovary	ovary
38	chr14:65380600-65382400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:65380600-65382400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr14:65380600-65382400	Active TSS	GM12878-XiMat	blood
41	chr14:65380600-65382400	Active TSS	K562	blood
42	chr14:65380600-65382800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:65380800-65381600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:65380800-65381600	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr14:65380800-65381600	Active TSS	Fetal Heart	heart
46	chr14:65380800-65381600	Active TSS	Fetal Muscle Leg	muscle
47	chr14:65380800-65381800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:65380800-65381800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:65380800-65381800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:65380800-65381800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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