Variant report

Variant	rs4899152
Chromosome Location	chr14:65387116-65387117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65386921-65387121	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32861977..32862713-chr14:65386776..65387380,2	MCF-7	breast:
2	chr14:65382279..65385178-chr14:65385744..65388338,3	K562	blood:
3	chr14:65385736..65387927-chr14:65453562..65455730,2	MCF-7	breast:
4	chr14:65384670..65387392-chr14:65406391..65409044,2	MCF-7	breast:
5	chr14:65381530..65387972-chr14:65390181..65394582,7	K562	blood:
6	chr14:65386742..65389344-chr14:65389891..65391402,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHURC1-FNTB	TF binding region
CHURC1	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10129479	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131002	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132742	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139435	0.92[AFR][1000 genomes]
rs10139595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142016	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142379	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144942	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146885	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10147758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149617	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498518	0.84[CEU][hapmap]
rs11158569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12172810	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590986	0.84[CEU][hapmap]
rs17102298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880380	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17881498	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1951488	0.84[CEU][hapmap]
rs1957425	0.84[CEU][hapmap]
rs2147615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3949937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899153	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67330703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7143764	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743264	0.84[CEU][hapmap]
rs8943	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8984	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9281	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs4899152	CHURC1	cis	Artery Aorta	GTEx
rs4899152	CHURC1	cis	lung	GTEx
rs4899152	CHURC1	cis	Whole Blood	GTEx
rs4899152	C14orf52	cis	multi-tissue	Pritchard
rs4899152	CHURC1	cis	Lymphoblastoid	GTEx
rs4899152	CHURC1	cis	multi-tissue	Pritchard
rs4899152	CHURC1	cis	Frontal Cortex	GTEx
rs4899152	CHURC1	cis	Heart Left Ventricle	GTEx
rs4899152	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs4899152	CHURC1	cis	Muscle Skeletal	GTEx
rs4899152	CHURC1	cis	Esophagus Mucosa	GTEx
rs4899152	CHURC1	cis	Temporal Cortex	GTEx
rs4899152	CHURC1	cis	normal skin	skin_eQTL
rs4899152	CHURC1	cis	uninvolved skin	skin_eQTL
rs4899152	CHURC1	cis	Brain Pons	GTEx
rs4899152	CHURC1	cis	Artery Tibial	GTEx
rs4899152	CHURC1	cis	Nerve Tibial	GTEx
rs4899152	CHURC1	cis	Esophagus Muscularis	GTEx
rs4899152	CHURC1	cis	Cerebellum	GTEx
rs4899152	CHURC1	cis	Thyroid	GTEx
rs4899152	CHURC1	cis	lesional skin	skin_eQTL
rs4899152	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs4899152	CHURC1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382000-65399200	Weak transcription	Esophagus	oesophagus
2	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65382200-65390800	Weak transcription	Placenta	Placenta
4	chr14:65382200-65391200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:65382200-65391600	Weak transcription	Ovary	ovary
6	chr14:65382200-65394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65382200-65395600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:65382400-65387800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:65382400-65388400	Weak transcription	Fetal Thymus	thymus
10	chr14:65382400-65390600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65382400-65390600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:65382400-65390600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:65382400-65390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:65382400-65390600	Weak transcription	Fetal Intestine Large	intestine
15	chr14:65382400-65390800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:65382400-65390800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65382400-65391000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:65382400-65391200	Weak transcription	Fetal Brain Female	brain
19	chr14:65382400-65391400	Weak transcription	Colonic Mucosa	Colon
20	chr14:65382400-65391600	Weak transcription	Fetal Stomach	stomach
21	chr14:65382400-65394000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
25	chr14:65382600-65391200	Weak transcription	Fetal Kidney	kidney
26	chr14:65382800-65387400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:65382800-65390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:65382800-65390600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:65382800-65390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:65382800-65390600	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:65382800-65390800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:65382800-65390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65382800-65390800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65382800-65390800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:65382800-65390800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:65382800-65390800	Weak transcription	NH-A	brain
37	chr14:65382800-65391000	Weak transcription	Brain Germinal Matrix	brain
38	chr14:65382800-65391200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:65382800-65391400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:65382800-65392000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:65382800-65393000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:65382800-65393000	Weak transcription	Right Ventricle	heart
43	chr14:65382800-65393000	Weak transcription	NHLF	lung
44	chr14:65382800-65394400	Weak transcription	Small Intestine	intestine
45	chr14:65382800-65394600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:65382800-65404200	Weak transcription	Stomach Mucosa	stomach
47	chr14:65383000-65388200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:65383000-65388200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:65383000-65388800	Enhancers	Primary T cells from cord blood	blood
50	chr14:65383000-65390000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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