Variant report

Variant	rs1695751
Chromosome Location	chr14:65289966-65289967
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	CTCF	chr14:65289940-65290270	Spleen_OC	spleen:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
2	CTCF	chr14:65289953-65290258	GM10266	blood:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
3	CREB1	chr14:65289882-65290278	A549	lung:	n/a	n/a
4	SMC3	chr14:65289899-65290394	Hela-S3	cervix:	n/a	chr14:65290112-65290126
5	MXI1	chr14:65289461-65290642	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr14:65289900-65290050	HFF-Myc	foreskin:	n/a	n/a
7	YY1	chr14:65289920-65290240	GM12878	blood:	n/a	n/a
8	SMC3	chr14:65288652-65290690	SK-N-SH	brain:	n/a	chr14:65289317-65289325 chr14:65289431-65289441 chr14:65290112-65290126 chr14:65290390-65290397
9	RAD21	chr14:65289765-65290683	SK-N-SH	brain:	n/a	chr14:65290112-65290126 chr14:65290395-65290408 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
10	CTCF	chr14:65289832-65290366	MCF-7	breast:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
11	CTCF	chr14:65289876-65290314	A549	lung:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
12	CTCF	chr14:65289906-65290273	ECC-1	luminal epithelium:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
13	CTCF	chr14:65289906-65290347	IMR90	lung:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
14	CTCF	chr14:65289840-65290339	A549	lung:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
15	RAD21	chr14:65289854-65290400	A549	lung:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
16	RAD21	chr14:65289744-65290474	MCF-7	breast:	n/a	chr14:65290112-65290126 chr14:65290395-65290408 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
17	IRF4	chr14:65289926-65290333	GM12878	blood:	n/a	n/a
18	CTCF	chr14:65289880-65290030	HMEC	breast:	n/a	n/a
19	RAD21	chr14:65289962-65290223	K562	blood:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223
20	CTCF	chr14:65288936-65290698	SK-N-SH	brain:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65289007-65289025 chr14:65289593-65289600 chr14:65290112-65290133
21	CTCF	chr14:65289880-65290349	H1-hESC	embryonic stem cell:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
22	ZNF263	chr14:65289826-65290873	HEK293-T-REx	kidney:	n/a	chr14:65290174-65290195
23	TCF3	chr14:65289949-65290321	GM12878	blood:	n/a	n/a
24	RAD21	chr14:65289819-65290433	H1-hESC	embryonic stem cell:	n/a	chr14:65290112-65290126 chr14:65290395-65290408 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
25	CTCF	chr14:65289912-65290252	K562	blood:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
26	CTCF	chr14:65289962-65290265	A549	lung:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
27	RAD21	chr14:65289933-65290379	IMR90	lung:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
28	CTCF	chr14:65289958-65290279	GM12878	blood:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
29	USF1	chr14:65289927-65290325	A549	lung:	n/a	n/a
30	RAD21	chr14:65289813-65290493	A549	lung:	n/a	chr14:65290112-65290126 chr14:65290395-65290408 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
31	YY1	chr14:65289936-65290240	GM12891	blood:	n/a	n/a
32	CTCF	chr14:65289900-65290050	HAc	cerebellar:	n/a	n/a
33	JUND	chr14:65289935-65290334	K562	blood:	n/a	chr14:65290160-65290169
34	ATF2	chr14:65289856-65290236	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr14:65289842-65290291	HepG2	liver:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
36	TEAD4	chr14:65289964-65290298	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr14:65289942-65290282	K562	blood:	n/a	n/a
38	CTCF	chr14:65289962-65290266	H1-hESC	embryonic stem cell:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
39	CTCF	chr14:65289945-65290341	K562	blood:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
40	RAD21	chr14:65289955-65290257	GM12878	blood:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223
41	RAD21	chr14:65289867-65290378	H1-hESC	embryonic stem cell:	n/a	chr14:65290112-65290126 chr14:65290111-65290130 chr14:65290112-65290121 chr14:65290209-65290223 chr14:65290274-65290283
42	RFX5	chr14:65289953-65290280	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr14:65289957-65290280	Gliobla	brain:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
44	CREB1	chr14:65289921-65290390	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr14:65289966-65290269	Hela-S3	cervix:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
46	CTCF	chr14:65289957-65290283	Fibrobl	skin:	n/a	chr14:65290113-65290121 chr14:65290110-65290128 chr14:65290112-65290133
47	SMC3	chr14:65289915-65290497	HepG2	liver:	n/a	chr14:65290112-65290126 chr14:65290390-65290397
48	MAZ	chr14:65289646-65290501	IMR90	lung:	n/a	n/a
49	ELF1	chr14:65289881-65290640	GM12878	blood:	n/a	n/a
50	CTCF	chr14:65289900-65290050	NHDF-neo	bronchial:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65289947-65289997	GM06990	blood:	n/a
2	chr14:65289947-65289997	NH-A	brain:	n/a
3	chr14:65289947-65289997	NT2-D1	testis:	n/a
4	chr14:65289947-65289997	AG09319	gingival:	n/a
5	chr14:65289947-65289997	HIPEpiC	eye:	n/a
6	chr14:65289947-65289997	ovcar-3	ovarian:	n/a
7	chr14:65289947-65289997	MCF10A-Er-Src	breast:	n/a
8	chr14:65289947-65289997	U87	brain:	n/a
9	chr14:65289947-65289997	HCPEpiC	choroid plexus:	n/a
10	chr14:65289947-65289997	HCF	heart:	n/a
11	chr14:65289947-65289997	ECC-1	luminal epithelium:	n/a
12	chr14:65289947-65289997	NHBE	bronchial:	n/a
13	chr14:65289947-65289997	Jurkat	blood:	n/a
14	chr14:65289947-65289997	A549	lung:	n/a
15	chr14:65289947-65289997	GM12891	blood:	n/a
16	chr14:65289947-65289997	HCT-116	colon:	n/a
17	chr14:65289947-65289997	SKMC	muscle:	n/a
18	chr14:65289947-65289997	HL-60	blood:	n/a
19	chr14:65289947-65289997	K562	blood:	n/a
20	chr14:65289947-65289997	HNPCEpiC	eye:	n/a
21	chr14:65289947-65289997	T-47D	breast:	n/a
22	chr14:65289947-65289997	HRPEpiC	eye:	n/a
23	chr14:65289947-65289997	NB4	blood:	n/a
24	chr14:65289947-65289997	GM19239	blood:	n/a
25	chr14:65289947-65289997	AoSMC	blood vessel:	n/a
26	chr14:65289947-65289997	PrEC	prostate:	n/a
27	chr14:65289947-65289997	GM12878	blood:	n/a
28	chr14:65289947-65289997	HAEpiC	amniotic membrane:	n/a
29	chr14:65289947-65289997	Caco-2	colon:	n/a
30	chr14:65289947-65289997	AG04450	lung:	fetal
31	chr14:65289947-65289997	SK-N-SH_RA	brain:	n/a
32	chr14:65289947-65289997	SK-N-SH	brain:	n/a
33	chr14:65289947-65289997	Hela-S3	cervix:	n/a
34	chr14:65289947-65289997	BE2_C	brain:	n/a
35	chr14:65289947-65289997	LNCaP	prostate:	n/a
36	chr14:65289947-65289997	H1-hESC	embryonic stem cell:	embryo
37	chr14:65289947-65289997	HMEC	breast:	n/a
38	chr14:65289947-65289997	HCM	heart:	n/a
39	chr14:65289947-65289997	NHDF-neo	bronchial:	n/a
40	chr14:65289947-65289997	PFSK-1	brain:	n/a
41	chr14:65289947-65289997	MCF-7	breast:	n/a
42	chr14:65289947-65289997	ProgFib	skin:	n/a
43	chr14:65289947-65289997	RPTEC	kidney:	n/a
44	chr14:65289947-65289997	AG10803	skin:	n/a
45	chr14:65289947-65289997	BJ	skin:	n/a
46	chr14:65289947-65289997	CMK	blood:	n/a
47	chr14:65289947-65289997	SK-N-MC	brain:	n/a
48	chr14:65289947-65289997	HRCEpiC	kidney:	n/a
49	chr14:65289947-65289997	SAEC	small airway:	n/a
50	chr14:65289947-65289997	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65268349..65269036-chr14:65289885..65290600,4	MCF-7	breast:
2	chr14:65269057..65270107-chr14:65289880..65290862,3	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
SPTB	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs114813	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587537	0.83[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1273204	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2016522	0.83[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2269292	0.83[CHD][hapmap]
rs229609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229611	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229616	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs229619	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs229667	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs229670	0.83[MEX][hapmap]
rs229673	0.84[MEX][hapmap]
rs2649196	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs28495181	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4027216	0.92[CHB][hapmap]
rs423927	1.00[CHB][hapmap]
rs438035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1695751	CHURC1	cis	parietal	SCAN
rs1695751	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs1695751	CHURC1	cis	multi-tissue	Pritchard
rs1695751	CHURC1	cis	cerebellum	SCAN
rs1695751	GPHB5	cis	cerebellum	SCAN
rs1695751	CHURC1	cis	lymphoblastoid	seeQTL
rs1695751	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1695751	VTI1B	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:65275800-65290000	Weak transcription	Psoas Muscle	Psoas
3	chr14:65285000-65290200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:65289200-65290200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:65289200-65290600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:65289200-65290800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:65289200-65291600	Genic enhancers	K562	blood
8	chr14:65289400-65290000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:65289400-65290000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:65289400-65290200	Enhancers	Placenta	Placenta
11	chr14:65289400-65290400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr14:65289400-65290600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65289400-65290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65289400-65291200	Enhancers	Right Ventricle	heart
15	chr14:65289600-65290000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr14:65289600-65290200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:65289600-65290200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:65289600-65290200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:65289600-65290200	Enhancers	Brain Angular Gyrus	brain
20	chr14:65289600-65290200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:65289600-65290200	Enhancers	Right Atrium	heart
22	chr14:65289600-65290400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr14:65289600-65290400	Enhancers	Gastric	stomach
24	chr14:65289600-65290600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:65289600-65293600	Enhancers	Fetal Heart	heart
26	chr14:65289800-65290000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:65289800-65290000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:65289800-65290000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:65289800-65290000	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr14:65289800-65290000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:65289800-65290000	Enhancers	Brain Substantia Nigra	brain
32	chr14:65289800-65290000	Flanking Active TSS	A549	lung
33	chr14:65289800-65290200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:65289800-65290200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:65289800-65290200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr14:65289800-65290200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:65289800-65290200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:65289800-65290200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:65289800-65290200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:65289800-65290200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:65289800-65290200	Enhancers	Pancreas	Pancrea
42	chr14:65289800-65290200	Enhancers	Hela-S3	cervix
43	chr14:65289800-65290200	Bivalent Enhancer	HepG2	liver
44	chr14:65289800-65290400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:65289800-65290400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr14:65289800-65290400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:65289800-65290400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr14:65289800-65290400	Enhancers	Colon Smooth Muscle	Colon
49	chr14:65289800-65290400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr14:65289800-65290400	Bivalent Enhancer	Fetal Intestine Small	intestine

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