Variant report

Variant	rs2277502
Chromosome Location	chr14:65412278-65412279
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	POLR2A	chr14:65412177-65412542	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:65412255-65412379	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr14:65412180-65412330	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:65412155-65412482	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:65412011-65412531	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr14:65412276-65412445	MCF-7	breast:	n/a	chr14:65412347-65412365 chr14:65412350-65412363 chr14:65412350-65412358 chr14:65412349-65412370
7	POLR2A	chr14:65412254-65412531	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:65412276-65412495	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:65412185-65413244	A549	lung:	n/a	n/a
10	POLR2A	chr14:65409058-65413386	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65411390..65415173-chr14:65438187..65441044,4	MCF-7	breast:
2	chr14:65395801..65398640-chr14:65409977..65412797,2	K562	blood:
3	chr14:65407165..65409389-chr14:65411251..65413100,2	K562	blood:
4	chr14:65381131..65382928-chr14:65411103..65413469,2	MCF-7	breast:
5	chr14:65409026..65413439-chr14:65416032..65420633,4	MCF-7	breast:

Variant related genes	Relation type
GPX2	TF binding region
ENSG00000139998	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11621450	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11621527	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622077	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624878	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625722	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626557	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11629410	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17752452	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17767942	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17767960	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17880303	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17880939	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17882875	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883358	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1886506	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3742599	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4899156	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4902331	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902333	0.80[CEU][hapmap]
rs4902347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902348	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902349	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902350	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902351	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60796816	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143764	0.92[CEU][hapmap]
rs7145282	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726275	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72726283	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72726294	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72726300	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72726301	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728213	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72728215	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2277502	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2277502	CHURC1	cis	Thyroid	GTEx
rs2277502	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2277502	CHURC1	cis	lung	GTEx
rs2277502	CHURC1	cis	Heart Left Ventricle	GTEx
rs2277502	CHURC1	cis	Artery Tibial	GTEx
rs2277502	CHURC1	cis	Muscle Skeletal	GTEx
rs2277502	CHURC1	cis	multi-tissue	Pritchard
rs2277502	CHURC1	cis	normal skin	skin_eQTL
rs2277502	CHURC1	cis	Whole Blood	GTEx
rs2277502	C14orf52	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
3	chr14:65383000-65419400	Weak transcription	K562	blood
4	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
6	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:65399000-65428000	Weak transcription	NHLF	lung
8	chr14:65399200-65412400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
12	chr14:65401600-65412400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:65401600-65413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:65401600-65435000	Weak transcription	NH-A	brain
15	chr14:65401800-65412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:65402400-65415000	Weak transcription	Osteobl	bone
17	chr14:65403000-65412800	Strong transcription	Thymus	Thymus
18	chr14:65403400-65414600	Weak transcription	Left Ventricle	heart
19	chr14:65404400-65414200	Weak transcription	Right Ventricle	heart
20	chr14:65404400-65415000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:65404400-65416600	Weak transcription	Psoas Muscle	Psoas
22	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:65404600-65413400	Weak transcription	HSMMtube	muscle
24	chr14:65404600-65414600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:65404600-65415600	Weak transcription	Fetal Heart	heart
26	chr14:65404600-65418200	Weak transcription	Brain Angular Gyrus	brain
27	chr14:65404600-65419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:65404800-65415000	Weak transcription	Ovary	ovary
29	chr14:65405000-65417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:65405400-65413200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr14:65405800-65416200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:65406000-65413000	Strong transcription	Adipose Nuclei	Adipose
33	chr14:65406400-65415600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:65406600-65413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
36	chr14:65407400-65414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:65407400-65415200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:65407600-65413400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr14:65407600-65414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65407800-65412800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:65407800-65417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65408000-65412800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:65408400-65414200	Weak transcription	Spleen	Spleen
44	chr14:65408400-65415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:65408600-65414000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:65409200-65412400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:65409200-65416000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:65409400-65414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:65409600-65413800	Weak transcription	Gastric	stomach
50	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach

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