Variant report

Variant	rs3814815
Chromosome Location	chr14:24702032-24702033
allele	A/C
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	SRF	chr14:24701308-24702425	MCF-7	breast:	n/a	n/a
2	EP300	chr14:24701605-24702214	A549	lung:	n/a	chr14:24701898-24701907 chr14:24702166-24702175 chr14:24702045-24702059 chr14:24702046-24702055
3	ZNF384	chr14:24701677-24702222	K562	blood:	n/a	n/a
4	TAF1	chr14:24701875-24702286	K562	blood:	n/a	n/a
5	MAX	chr14:24701612-24702278	H1-hESC	embryonic stem cell:	n/a	chr14:24702039-24702048
6	SPI1	chr14:24701955-24702143	GM12878	blood:	n/a	chr14:24702046-24702055
7	POLR2A	chr14:24700737-24702955	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24701157-24702549	A549	lung:	n/a	n/a
9	SIN3AK20	chr14:24701025-24702522	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:24701211-24702648	PANC-1	pancreas:	n/a	n/a
11	TEAD4	chr14:24701806-24702331	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr14:24701043-24702311	A549	lung:	n/a	n/a
13	POLR2A	chr14:24701300-24702303	HCT-116	colon:	n/a	n/a
14	SMARCC2	chr14:24700888-24702439	Hela-S3	cervix:	n/a	chr14:24701823-24701832 chr14:24701774-24701783
15	POLR2A	chr14:24701115-24702310	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr14:24701318-24702295	H1-hESC	embryonic stem cell:	n/a	chr14:24702091-24702100
17	POLR2A	chr14:24701243-24702369	K562	blood:	n/a	n/a
18	SPI1	chr14:24701202-24702612	HL-60	blood:	n/a	chr14:24702163-24702176 chr14:24702046-24702055
19	MAZ	chr14:24701044-24702480	IMR90	lung:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
20	RCOR1	chr14:24701367-24702154	K562	blood:	n/a	n/a
21	HNF4A	chr14:24701466-24702273	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:24701523-24702215	K562	blood:	n/a	n/a
23	USF2	chr14:24701620-24702654	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr14:24701017-24702508	MCF-7	breast:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
25	BCLAF1	chr14:24701532-24702689	GM12878	blood:	n/a	chr14:24702047-24702056
26	MAX	chr14:24701156-24702610	SK-N-SH	brain:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
27	TAF1	chr14:24700734-24702481	HepG2	liver:	n/a	n/a
28	ZNF143	chr14:24701139-24702219	K562	blood:	n/a	chr14:24701814-24701832 chr14:24701875-24701894 chr14:24701821-24701830 chr14:24701774-24701792 chr14:24701823-24701832 chr14:24701384-24701402 chr14:24701776-24701785 chr14:24701774-24701783
29	TCF12	chr14:24701264-24702399	ECC-1	luminal epithelium:	n/a	chr14:24701651-24701658
30	TCF7L2	chr14:24701704-24702490	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:24700942-24702251	H1-neurons	neurons:	n/a	n/a
32	ZNF143	chr14:24701119-24702320	H1-hESC	embryonic stem cell:	n/a	chr14:24701814-24701832 chr14:24701875-24701894 chr14:24701821-24701830 chr14:24701774-24701792 chr14:24701823-24701832 chr14:24701384-24701402 chr14:24701776-24701785 chr14:24701774-24701783
33	POLR2A	chr14:24701077-24702587	GM15510	blood:	n/a	n/a
34	SIN3A	chr14:24701150-24702374	GM12878	blood:	n/a	n/a
35	UBTF	chr14:24701865-24702367	K562	blood:	n/a	n/a
36	POLR2A	chr14:24701152-24702543	HepG2	liver:	n/a	n/a
37	STAT3	chr14:24701367-24702244	MCF10A-Er-Src	breast:	n/a	chr14:24701600-24701612 chr14:24701601-24701613 chr14:24701602-24701614 chr14:24701597-24701609 chr14:24702087-24702099 chr14:24701599-24701611 chr14:24701603-24701615
38	MYC	chr14:24701479-24702926	MCF10A-Er-Src	breast:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
39	MXI1	chr14:24701774-24702648	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:24701192-24702482	A549	lung:	n/a	n/a
41	MYC	chr14:24701376-24702180	H1-hESC	embryonic stem cell:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
42	TEAD4	chr14:24702017-24702292	HepG2	liver:	n/a	n/a
43	NFIC	chr14:24701266-24702414	GM12878	blood:	n/a	n/a
44	ELK1	chr14:24701250-24702261	GM12878	blood:	n/a	n/a
45	ELF1	chr14:24701073-24702418	HCT-116	colon:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
46	MAX	chr14:24701105-24702424	ECC-1	luminal epithelium:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
47	MAX	chr14:24701151-24702501	ECC-1	luminal epithelium:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
48	WRNIP1	chr14:24701772-24702622	GM12878	blood:	n/a	n/a
49	EP300	chr14:24701370-24702280	K562	blood:	n/a	chr14:24701524-24701540 chr14:24701898-24701907 chr14:24702166-24702175 chr14:24702045-24702059 chr14:24701574-24701581 chr14:24702046-24702055
50	SPI1	chr14:24701663-24702325	GM12878	blood:	n/a	chr14:24702163-24702176 chr14:24702046-24702055

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24701991-24702041	RPTEC	kidney:	n/a
2	chr14:24701991-24702041	HAEpiC	amniotic membrane:	n/a
3	chr14:24701991-24702041	GM12891	blood:	n/a
4	chr14:24701991-24702041	GM12892	blood:	n/a
5	chr14:24701991-24702041	AG10803	skin:	n/a
6	chr14:24701991-24702041	HIPEpiC	eye:	n/a
7	chr14:24701991-24702041	Jurkat	blood:	n/a
8	chr14:24701991-24702041	SK-N-MC	brain:	n/a
9	chr14:24701991-24702041	GM06990	blood:	n/a
10	chr14:24701991-24702041	AG09319	gingival:	n/a
11	chr14:24701991-24702041	CMK	blood:	n/a
12	chr14:24701991-24702041	SK-N-SH_RA	brain:	n/a
13	chr14:24701991-24702041	AG04450	lung:	fetal
14	chr14:24701991-24702041	MCF-7	breast:	n/a
15	chr14:24701991-24702041	ProgFib	skin:	n/a
16	chr14:24701991-24702041	ECC-1	luminal epithelium:	n/a
17	chr14:24701991-24702041	HRCEpiC	kidney:	n/a
18	chr14:24701991-24702041	ovcar-3	ovarian:	n/a
19	chr14:24701991-24702041	HCM	heart:	n/a
20	chr14:24701991-24702041	HEEpiC	esophagus:	n/a
21	chr14:24701991-24702041	NHDF-neo	bronchial:	n/a
22	chr14:24701991-24702041	SK-N-SH	brain:	n/a
23	chr14:24701991-24702041	Hela-S3	cervix:	n/a
24	chr14:24701991-24702041	MCF10A-Er-Src	breast:	n/a
25	chr14:24701991-24702041	HUVEC	blood vessel:	n/a
26	chr14:24701991-24702041	HRPEpiC	eye:	n/a
27	chr14:24701991-24702041	PFSK-1	brain:	n/a
28	chr14:24701991-24702041	AG04449	skin:	fetal
29	chr14:24701991-24702041	NH-A	brain:	n/a
30	chr14:24701991-24702041	AG09309	skin:	n/a
31	chr14:24701991-24702041	HepG2	liver:	n/a
32	chr14:24701991-24702041	HCT-116	colon:	n/a
33	chr14:24701991-24702041	HEK293	kidney:	embryo
34	chr14:24701991-24702041	HCF	heart:	n/a
35	chr14:24701991-24702041	GM12878	blood:	n/a
36	chr14:24701991-24702041	PANC-1	pancreas:	n/a
37	chr14:24701991-24702041	GM19239	blood:	n/a
38	chr14:24701991-24702041	A549	lung:	n/a
39	chr14:24701991-24702041	NB4	blood:	n/a
40	chr14:24701991-24702041	HRE	kidney:	n/a
41	chr14:24701991-24702041	Hepatocyte	liver:	n/a
42	chr14:24701991-24702041	BE2_C	brain:	n/a
43	chr14:24701991-24702041	NHBE	bronchial:	n/a
44	chr14:24701991-24702041	H1-hESC	embryonic stem cell:	embryo
45	chr14:24701991-24702041	HL-60	blood:	n/a
46	chr14:24701991-24702041	LNCaP	prostate:	n/a
47	chr14:24701991-24702041	U87	brain:	n/a
48	chr14:24701991-24702041	BJ	skin:	n/a
49	chr14:24701991-24702041	K562	blood:	n/a
50	chr14:24701991-24702041	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24700875..24703033-chr14:24898892..24902478,3	MCF-7	breast:
2	chr14:24701050..24705855-chr14:24766597..24769956,4	K562	blood:
3	chr14:24630128..24630826-chr14:24701791..24702723,2	K562	blood:
4	chr14:24563401..24566381-chr14:24701473..24703662,2	MCF-7	breast:
5	chr14:24657518..24659556-chr14:24700250..24703163,3	K562	blood:
6	chr14:24681838..24686459-chr14:24698203..24703209,7	K562	blood:
7	chr14:24605251..24607520-chr14:24700046..24702843,4	MCF-7	breast:
8	chr14:24614827..24617207-chr14:24699385..24702820,4	MCF-7	breast:
9	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
10	chr14:24582318..24585060-chr14:24701841..24703415,2	K562	blood:
11	chr14:24701714..24702395-chr17:56736074..56737039,2	MCF-7	breast:
12	chr14:24700052..24703046-chr14:24899147..24901202,2	K562	blood:
13	chr14:24544738..24546942-chr14:24701950..24703617,2	MCF-7	breast:
14	chr14:24527708..24530039-chr14:24700463..24703300,2	K562	blood:
15	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
16	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
17	chr14:24609208..24611356-chr14:24699295..24702629,3	MCF-7	breast:
18	chr14:24701099..24702081-chr2:20251545..20252199,2	Hela-S3	cervix:
19	chr14:24700462..24703235-chr14:24790000..24792111,3	MCF-7	breast:

Variant related genes	Relation type
NEDD8	TF binding region
GMPR2	TF binding region
NEDD8-MDP1	TF binding region
GMPR2	CpG island
NEDD8	CpG island
NEDD8-MDP1	CpG island
ENSG00000100897	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12588742	0.84[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs12588782	0.85[AMR][1000 genomes]
rs12589157	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17184526	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs2234095	0.81[CHB][hapmap]
rs2234096	0.91[JPT][hapmap]
rs2295318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2295319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55949103	0.85[AMR][1000 genomes]
rs59033623	0.96[ASN][1000 genomes]
rs72694311	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72694312	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8007272	0.96[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24700000-24703000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:24700200-24702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:24700200-24702800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:24700200-24702800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:24700200-24703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:24700400-24702200	Active TSS	HMEC	breast
7	chr14:24700400-24702200	Active TSS	HSMMtube	muscle
8	chr14:24700400-24702200	Active TSS	K562	blood
9	chr14:24700400-24702200	Active TSS	NH-A	brain
10	chr14:24700400-24702400	Active TSS	Fetal Intestine Small	intestine
11	chr14:24700400-24702400	Active TSS	NHLF	lung
12	chr14:24700400-24702600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:24700400-24702600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:24700400-24703000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:24700400-24703200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:24700400-24703200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:24700400-24703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:24700600-24702200	Active TSS	Hela-S3	cervix
19	chr14:24700600-24702200	Bivalent/Poised TSS	HepG2	liver
20	chr14:24700600-24702400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:24700600-24702400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:24700600-24702400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:24700600-24702400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:24700600-24702400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:24700600-24702400	Active TSS	GM12878-XiMat	blood
26	chr14:24700600-24702400	Active TSS	NHDF-Ad	bronchial
27	chr14:24700600-24702600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr14:24700600-24702600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:24700600-24702600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:24700600-24702600	Active TSS	Fetal Kidney	kidney
31	chr14:24700600-24702600	Active TSS	A549	lung
32	chr14:24700600-24702800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:24700600-24703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:24700800-24702400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr14:24700800-24702400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:24700800-24702400	Active TSS	Lung	lung
37	chr14:24700800-24702600	Active TSS	Stomach Mucosa	stomach
38	chr14:24700800-24702800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:24700800-24702800	Active TSS	Aorta	Aorta
40	chr14:24700800-24702800	Active TSS	Psoas Muscle	Psoas
41	chr14:24701000-24702200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:24701000-24702200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:24701000-24702200	Active TSS	Primary T cells from cord blood	blood
44	chr14:24701000-24702200	Active TSS	Pancreas	Pancrea
45	chr14:24701000-24702200	Active TSS	Dnd41	blood
46	chr14:24701000-24702200	Active TSS	Osteobl	bone
47	chr14:24701000-24702400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:24701000-24702400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:24701000-24702400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:24701000-24702400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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