Variant report

Variant	rs11623866
Chromosome Location	chr14:65453063-65453064
allele	C/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	HCFC1	chr14:65453032-65455263	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr14:65453014-65453072	K562	blood:	n/a	n/a
3	REST	chr14:65453007-65454415	H1-neurons	neurons:	n/a	chr14:65453887-65453897 chr14:65453896-65453916 chr14:65453926-65453939
4	CTCF	chr14:65453052-65454491	SK-N-SH	brain:	n/a	chr14:65453186-65453199 chr14:65453486-65453504
5	POLR2A	chr14:65452894-65453334	H1-neurons	neurons:	n/a	n/a
6	MXI1	chr14:65452740-65455052	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr14:65453042-65454512	A549	lung:	n/a	chr14:65453186-65453199 chr14:65453486-65453504
8	MAX	chr14:65453052-65454179	GM12878	blood:	n/a	chr14:65453127-65453137
9	SIN3A	chr14:65453036-65454428	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:65453020-65453170	HCM	heart:	n/a	n/a
11	MXI1	chr14:65453027-65454634	IMR90	lung:	n/a	n/a
12	CTCF	chr14:65453040-65453190	GM12871	blood:	n/a	n/a
13	RAD21	chr14:65453008-65454259	SK-N-SH	brain:	n/a	n/a
14	SIN3AK20	chr14:65452989-65454596	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:128491648..128492393-chr14:65452352..65453312,2	MCF-7	breast:
2	chr14:65453059..65456950-chr14:65478988..65484020,4	MCF-7	breast:
3	chr14:65435373..65439522-chr14:65449572..65455038,8	MCF-7	breast:
4	chr14:65451451..65454703-chr14:65567810..65571977,3	MCF-7	breast:

Variant related genes	Relation type
FNTB	TF binding region
ENSG00000125952	Chromatin interaction
ENSG00000255465	Chromatin interaction
ENSG00000264620	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10132686	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4499147	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs4902355	0.84[TSI][hapmap]
rs61160081	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7160073	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.80[MEX][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11623866	CHURC1	cis	multi-tissue	Pritchard
rs11623866	RAB15	cis	cerebellum	SCAN
rs11623866	CHURC1	cis	Muscle Skeletal	GTEx
rs11623866	FNTB	cis	cerebellum	SCAN
rs11623866	CHURC1	cis	cerebellum	SCAN
rs11623866	CHURC1	cis	Artery Tibial	GTEx
rs11623866	CHURC1	cis	Thyroid	GTEx
rs11623866	CHURC1	cis	Whole Blood	GTEx
rs11623866	MAX	cis	cerebellum	SCAN
rs11623866	CHURC1	cis	lymphoblastoid	seeQTL
rs11623866	CHURC1	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65439600-65453600	Weak transcription	Aorta	Aorta
2	chr14:65446600-65453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65446600-65453600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:65446800-65453200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65446800-65453200	Weak transcription	Placenta	Placenta
6	chr14:65450600-65453200	Weak transcription	Right Atrium	heart
7	chr14:65450600-65453200	Weak transcription	Right Ventricle	heart
8	chr14:65451200-65453200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:65451600-65453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:65452800-65453200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65452800-65453200	Enhancers	Primary B cells from cord blood	blood
12	chr14:65452800-65453200	Enhancers	Fetal Intestine Small	intestine
13	chr14:65452800-65453400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr14:65452800-65453400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:65452800-65453400	Flanking Active TSS	Dnd41	blood
16	chr14:65452800-65453400	Flanking Active TSS	Hela-S3	cervix
17	chr14:65452800-65453400	Flanking Active TSS	HepG2	liver
18	chr14:65452800-65454400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:65453000-65453200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:65453000-65453200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:65453000-65453200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:65453000-65453200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr14:65453000-65453200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr14:65453000-65453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:65453000-65453200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:65453000-65453200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:65453000-65453200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:65453000-65453200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:65453000-65453200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:65453000-65453200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:65453000-65453200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr14:65453000-65453200	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:65453000-65453200	Flanking Active TSS	Esophagus	oesophagus
34	chr14:65453000-65453200	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr14:65453000-65453200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:65453000-65453200	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:65453000-65453200	Enhancers	Fetal Muscle Leg	muscle
38	chr14:65453000-65453200	Enhancers	Fetal Stomach	stomach
39	chr14:65453000-65453200	Flanking Active TSS	Pancreas	Pancrea
40	chr14:65453000-65453200	Flanking Active TSS	Psoas Muscle	Psoas
41	chr14:65453000-65453200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:65453000-65453200	Enhancers	Stomach Mucosa	stomach
43	chr14:65453000-65453200	Flanking Active TSS	Thymus	Thymus
44	chr14:65453000-65453200	Flanking Active TSS	A549	lung
45	chr14:65453000-65453200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr14:65453000-65453200	Flanking Active TSS	NHLF	lung
47	chr14:65453000-65453400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:65453000-65453400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:65453000-65453400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr14:65453000-65453400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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