Variant report

Variant	rs71413450
Chromosome Location	chr14:77648001-77648002
allele	A/T
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	FAM48A	chr14:77647888-77648103	GM12878	blood:	n/a	n/a
2	TCF12	chr14:77647784-77648159	H1-hESC	embryonic stem cell:	n/a	chr14:77647843-77647853
3	BACH1	chr14:77647926-77648568	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr14:77647976-77648388	SK-N-SH	brain:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
5	KAP1	chr14:77647812-77648254	U2OS	brain:	n/a	n/a
6	POLR2A	chr14:77647994-77648319	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr14:77647885-77648239	HCT-116	colon:	n/a	chr14:77648212-77648223
8	RCOR1	chr14:77647934-77648027	HepG2	liver:	n/a	n/a
9	SIN3A	chr14:77647624-77648803	H1-hESC	embryonic stem cell:	n/a	chr14:77647705-77647716 chr14:77648213-77648227 chr14:77648620-77648631
10	POLR2A	chr14:77647764-77648021	HCT-116	colon:	n/a	n/a
11	MYC	chr14:77647896-77648336	MCF10A-Er-Src	breast:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
12	CREB1	chr14:77647622-77648449	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP4	chr14:77647694-77648121	H1-hESC	embryonic stem cell:	n/a	chr14:77647999-77648015 chr14:77648001-77648012
14	NFIC	chr14:77647765-77648317	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr14:77647726-77648398	H1-hESC	embryonic stem cell:	n/a	chr14:77648202-77648216
16	CREB1	chr14:77647522-77648391	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr14:77647488-77648337	H1-hESC	embryonic stem cell:	n/a	chr14:77648212-77648223 chr14:77648322-77648331
18	POLR2A	chr14:77647926-77648508	MCF-7	breast:	n/a	n/a
19	MAX	chr14:77647624-77648994	H1-hESC	embryonic stem cell:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
20	RAD21	chr14:77647956-77648257	H1-hESC	embryonic stem cell:	n/a	chr14:77648202-77648216
21	TCF12	chr14:77647752-77648265	H1-hESC	embryonic stem cell:	n/a	chr14:77647843-77647853
22	ATF2	chr14:77647709-77648274	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr14:77647835-77648389	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:77647699-77648952	H1-neurons	neurons:	n/a	n/a
25	TAF1	chr14:77647600-77648416	H1-hESC	embryonic stem cell:	n/a	n/a
26	YY1	chr14:77647723-77648229	SK-N-SH_RA	brain:	n/a	chr14:77648212-77648223
27	MAZ	chr14:77647895-77648117	Hela-S3	cervix:	n/a	n/a
28	YY1	chr14:77647891-77648347	ECC-1	luminal epithelium:	n/a	chr14:77648212-77648223 chr14:77648322-77648331
29	YY1	chr14:77647832-77648219	GM12892	blood:	n/a	n/a
30	POLR2A	chr14:77647883-77648265	HCT-116	colon:	n/a	n/a
31	TCF12	chr14:77647741-77648438	ECC-1	luminal epithelium:	n/a	chr14:77647843-77647853
32	SP4	chr14:77647673-77648279	H1-hESC	embryonic stem cell:	n/a	chr14:77647999-77648015 chr14:77648001-77648012
33	MAX	chr14:77647627-77648603	H1-hESC	embryonic stem cell:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
34	TCF12	chr14:77647732-77648295	A549	lung:	n/a	chr14:77647843-77647853
35	YY1	chr14:77647833-77648182	GM12878	blood:	n/a	n/a
36	TAF1	chr14:77647855-77648600	H1-neurons	neurons:	n/a	n/a
37	SP1	chr14:77647685-77648286	A549	lung:	n/a	chr14:77648003-77648012 chr14:77648002-77648012 chr14:77648002-77648011 chr14:77648001-77648013 chr14:77648001-77648013 chr14:77647699-77647709 chr14:77648001-77648012 chr14:77648003-77648012 chr14:77647700-77647709
38	SP1	chr14:77647645-77648375	H1-hESC	embryonic stem cell:	n/a	chr14:77648321-77648333 chr14:77648315-77648327 chr14:77648003-77648012 chr14:77648323-77648332 chr14:77648002-77648012 chr14:77648002-77648011 chr14:77648001-77648013 chr14:77648316-77648325 chr14:77648323-77648332 chr14:77648001-77648013 chr14:77648318-77648332 chr14:77647699-77647709 chr14:77648001-77648012 chr14:77648003-77648012 chr14:77647700-77647709 chr14:77648322-77648331
39	EBF1	chr14:77647829-77648490	GM12878	blood:	n/a	n/a
40	TAF1	chr14:77647948-77648330	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr14:77647896-77648283	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr14:77647876-77648205	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:77647606-77648432	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr14:77647736-77648488	MCF-7	breast:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
45	ZNF143	chr14:77647596-77648247	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr14:77647755-77648427	H1-hESC	embryonic stem cell:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
47	MAX	chr14:77647872-77648387	A549	lung:	n/a	chr14:77648320-77648330 chr14:77648235-77648251
48	POLR2A	chr14:77647969-77648339	ECC-1	luminal epithelium:	n/a	n/a
49	EP300	chr14:77647723-77648279	H1-hESC	embryonic stem cell:	n/a	chr14:77648254-77648270
50	MYC	chr14:77647973-77648159	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:77647983-77648033	BJ	skin:	n/a
2	chr14:77647983-77648033	CMK	blood:	n/a
3	chr14:77647955-77648005	ovcar-3	ovarian:	n/a
4	chr14:77647983-77648033	GM12891	blood:	n/a
5	chr14:77647955-77648005	HRPEpiC	eye:	n/a
6	chr14:77647983-77648033	NHDF-neo	bronchial:	n/a
7	chr14:77647983-77648033	HCF	heart:	n/a
8	chr14:77647955-77648005	Jurkat	blood:	n/a
9	chr14:77647983-77648033	AG09319	gingival:	n/a
10	chr14:77647955-77648005	HNPCEpiC	eye:	n/a
11	chr14:77647955-77648005	HMEC	breast:	n/a
12	chr14:77647983-77648033	HNPCEpiC	eye:	n/a
13	chr14:77647957-77648007	HAEpiC	amniotic membrane:	n/a
14	chr14:77647955-77648005	Hepatocyte	liver:	n/a
15	chr14:77647983-77648033	PANC-1	pancreas:	n/a
16	chr14:77647983-77648033	K562	blood:	n/a
17	chr14:77647955-77648005	H1-hESC	embryonic stem cell:	embryo
18	chr14:77647983-77648033	ovcar-3	ovarian:	n/a
19	chr14:77647983-77648033	NB4	blood:	n/a
20	chr14:77647955-77648005	GM12878	blood:	n/a
21	chr14:77647983-77648033	H1-hESC	embryonic stem cell:	embryo
22	chr14:77647957-77648007	BE2_C	brain:	n/a
23	chr14:77647955-77648005	SKMC	muscle:	n/a
24	chr14:77647957-77648007	GM12891	blood:	n/a
25	chr14:77647955-77648005	NHDF-neo	bronchial:	n/a
26	chr14:77647957-77648007	NHDF-neo	bronchial:	n/a
27	chr14:77647957-77648007	A549	lung:	n/a
28	chr14:77647957-77648007	HL-60	blood:	n/a
29	chr14:77647955-77648005	HRCEpiC	kidney:	n/a
30	chr14:77647983-77648033	HRE	kidney:	n/a
31	chr14:77647955-77648005	PrEC	prostate:	n/a
32	chr14:77647983-77648033	T-47D	breast:	n/a
33	chr14:77647955-77648005	SK-N-SH_RA	brain:	n/a
34	chr14:77647955-77648005	HL-60	blood:	n/a
35	chr14:77647957-77648007	HRCEpiC	kidney:	n/a
36	chr14:77647955-77648005	GM12891	blood:	n/a
37	chr14:77647955-77648005	AG04449	skin:	fetal
38	chr14:77647957-77648007	AG09319	gingival:	n/a
39	chr14:77647957-77648007	CMK	blood:	n/a
40	chr14:77647955-77648005	AG09309	skin:	n/a
41	chr14:77647955-77648005	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:77647955-77648005	HEK293	kidney:	embryo
43	chr14:77647983-77648033	MCF10A-Er-Src	breast:	n/a
44	chr14:77647957-77648007	SK-N-SH	brain:	n/a
45	chr14:77647957-77648007	HepG2	liver:	n/a
46	chr14:77647955-77648005	U87	brain:	n/a
47	chr14:77647955-77648005	SK-N-MC	brain:	n/a
48	chr14:77647957-77648007	Caco-2	colon:	n/a
49	chr14:77647955-77648005	K562	blood:	n/a
50	chr14:77647983-77648033	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77640676..77643134-chr14:77646615..77650592,3	MCF-7	breast:
2	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
3	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
4	chr14:77646354..77648830-chr14:77666464..77668226,2	MCF-7	breast:
5	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
6	chr14:77642180..77644687-chr14:77647056..77649855,2	MCF-7	breast:

Variant related genes	Relation type
TMEM63C	TF binding region
TMEM63C	CpG island
ENSG00000009830	Chromatin interaction
ENSG00000201384	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1504522	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17105476	0.91[ASN][1000 genomes]
rs17750140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2021536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2287380	1.00[AFR][1000 genomes]
rs2540891	0.89[EUR][1000 genomes]
rs2540893	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2540894	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2540895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540901	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2655976	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2655977	0.89[EUR][1000 genomes]
rs34002218	0.89[EUR][1000 genomes]
rs34970502	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs367095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs404418	1.00[AFR][1000 genomes]
rs419630	1.00[AFR][1000 genomes]
rs419869	1.00[AFR][1000 genomes]
rs727921	0.91[ASN][1000 genomes]
rs750932	1.00[AMR][1000 genomes]
rs8010477	1.00[AFR][1000 genomes]
rs905734	0.89[EUR][1000 genomes]
rs905735	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv976845	chr14:77621865-77649191	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71413450	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77647200-77648200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:77647600-77648200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr14:77647600-77648200	Flanking Active TSS	Fetal Brain Female	brain
4	chr14:77647600-77648800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:77647600-77648800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:77647600-77648800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr14:77647600-77649000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
11	chr14:77647600-77649200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:77647600-77649200	Enhancers	Spleen	Spleen
13	chr14:77647600-77649400	Active TSS	Brain Anterior Caudate	brain
14	chr14:77647800-77648200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
15	chr14:77647800-77648200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:77647800-77648200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:77647800-77648200	Flanking Active TSS	Fetal Brain Male	brain
18	chr14:77647800-77648200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
19	chr14:77647800-77648400	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr14:77647800-77648400	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr14:77647800-77648600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:77647800-77648600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:77647800-77648600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:77647800-77648600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr14:77647800-77648600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr14:77647800-77648600	Active TSS	Fetal Intestine Large	intestine
27	chr14:77647800-77648600	Active TSS	Fetal Kidney	kidney
28	chr14:77647800-77648600	Bivalent Enhancer	Fetal Lung	lung
29	chr14:77647800-77648600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr14:77647800-77648800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr14:77647800-77648800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:77647800-77648800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:77647800-77648800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
37	chr14:77647800-77648800	Active TSS	Brain Substantia Nigra	brain
38	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr14:77647800-77648800	Flanking Active TSS	Pancreas	Pancrea
41	chr14:77647800-77648800	Bivalent/Poised TSS	Thymus	Thymus
42	chr14:77647800-77648800	Active TSS	A549	lung
43	chr14:77647800-77648800	Active TSS	NHEK	skin
44	chr14:77647800-77649000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:77647800-77649000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:77647800-77649000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:77647800-77649000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr14:77647800-77649000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:77647800-77649000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:77647800-77649000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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