Variant report

Variant	rs17102191
Chromosome Location	chr14:24702230-24702231
allele	C/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	SRF	chr14:24701308-24702425	MCF-7	breast:	n/a	n/a
2	SMC3	chr14:24702039-24702313	HepG2	liver:	n/a	n/a
3	TAF1	chr14:24701875-24702286	K562	blood:	n/a	n/a
4	MAX	chr14:24701612-24702278	H1-hESC	embryonic stem cell:	n/a	chr14:24702039-24702048
5	POLR2A	chr14:24700737-24702955	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:24701157-24702549	A549	lung:	n/a	n/a
7	SIN3AK20	chr14:24701025-24702522	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24701211-24702648	PANC-1	pancreas:	n/a	n/a
9	TEAD4	chr14:24701806-24702331	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr14:24701043-24702311	A549	lung:	n/a	n/a
11	POLR2A	chr14:24701300-24702303	HCT-116	colon:	n/a	n/a
12	SMARCC2	chr14:24700888-24702439	Hela-S3	cervix:	n/a	chr14:24701823-24701832 chr14:24701774-24701783
13	POLR2A	chr14:24701115-24702310	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr14:24701318-24702295	H1-hESC	embryonic stem cell:	n/a	chr14:24702091-24702100
15	POLR2A	chr14:24701243-24702369	K562	blood:	n/a	n/a
16	SPI1	chr14:24701202-24702612	HL-60	blood:	n/a	chr14:24702163-24702176 chr14:24702046-24702055
17	MAZ	chr14:24701044-24702480	IMR90	lung:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
18	HNF4A	chr14:24701466-24702273	HepG2	liver:	n/a	n/a
19	USF2	chr14:24701620-24702654	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr14:24701017-24702508	MCF-7	breast:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
21	BCLAF1	chr14:24701532-24702689	GM12878	blood:	n/a	chr14:24702047-24702056
22	MAX	chr14:24701156-24702610	SK-N-SH	brain:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
23	TAF1	chr14:24700734-24702481	HepG2	liver:	n/a	n/a
24	TCF12	chr14:24701264-24702399	ECC-1	luminal epithelium:	n/a	chr14:24701651-24701658
25	TCF7L2	chr14:24701704-24702490	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:24700942-24702251	H1-neurons	neurons:	n/a	n/a
27	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
28	POLR2A	chr14:24701077-24702587	GM15510	blood:	n/a	n/a
29	SIN3A	chr14:24701150-24702374	GM12878	blood:	n/a	n/a
30	UBTF	chr14:24701865-24702367	K562	blood:	n/a	n/a
31	POLR2A	chr14:24701152-24702543	HepG2	liver:	n/a	n/a
32	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
33	MYC	chr14:24701479-24702926	MCF10A-Er-Src	breast:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
34	MXI1	chr14:24701774-24702648	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:24701192-24702482	A549	lung:	n/a	n/a
36	TEAD4	chr14:24702017-24702292	HepG2	liver:	n/a	n/a
37	NFIC	chr14:24701266-24702414	GM12878	blood:	n/a	n/a
38	ELK1	chr14:24701250-24702261	GM12878	blood:	n/a	n/a
39	ELF1	chr14:24701073-24702418	HCT-116	colon:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
40	MAX	chr14:24701105-24702424	ECC-1	luminal epithelium:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
41	MAX	chr14:24701151-24702501	ECC-1	luminal epithelium:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
42	WRNIP1	chr14:24701772-24702622	GM12878	blood:	n/a	n/a
43	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
44	SPI1	chr14:24701663-24702325	GM12878	blood:	n/a	chr14:24702163-24702176 chr14:24702046-24702055
45	TAF1	chr14:24701360-24702270	GM12878	blood:	n/a	n/a
46	MXI1	chr14:24701201-24702432	Hela-S3	cervix:	n/a	chr14:24701259-24701268
47	CREB1	chr14:24701111-24702487	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:24701257-24702738	HepG2	liver:	n/a	n/a
49	SIX5	chr14:24701126-24702496	A549	lung:	n/a	chr14:24701823-24701832 chr14:24701774-24701783 chr14:24701776-24701785 chr14:24701821-24701830 chr14:24701772-24701786
50	ZNF143	chr14:24701144-24702396	Hela-S3	cervix:	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

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	chr14:24505359..24507247-chr14:24702110..24704400,2	MCF-7	breast:
16	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
17	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
18	chr14:24609208..24611356-chr14:24699295..24702629,3	MCF-7	breast:
19	chr14:24700462..24703235-chr14:24790000..24792111,3	MCF-7	breast:

Variant related genes	Relation type
NEDD8-MDP1	TF binding region
GMPR2	TF binding region
NEDD8	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000254692	Chromatin interaction

rs_ID	r²[population]
rs7152342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	chr14:24700400-24702400	Active TSS	Fetal Intestine Small	intestine
7	chr14:24700400-24702400	Active TSS	NHLF	lung
8	chr14:24700400-24702600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:24700400-24702600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:24700400-24703000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:24700400-24703200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:24700400-24703200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:24700400-24703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr14:24700600-24702400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:24700600-24702400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:24700600-24702400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:24700600-24702400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:24700600-24702400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:24700600-24702400	Active TSS	GM12878-XiMat	blood
20	chr14:24700600-24702400	Active TSS	NHDF-Ad	bronchial
21	chr14:24700600-24702600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr14:24700600-24702600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:24700600-24702600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:24700600-24702600	Active TSS	Fetal Kidney	kidney
25	chr14:24700600-24702600	Active TSS	A549	lung
26	chr14:24700600-24702800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:24700600-24703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:24700800-24702400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:24700800-24702400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:24700800-24702400	Active TSS	Lung	lung
31	chr14:24700800-24702600	Active TSS	Stomach Mucosa	stomach
32	chr14:24700800-24702800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:24700800-24702800	Active TSS	Aorta	Aorta
34	chr14:24700800-24702800	Active TSS	Psoas Muscle	Psoas
35	chr14:24701000-24702400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:24701000-24702400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:24701000-24702400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:24701000-24702400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:24701000-24702400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:24701000-24702400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr14:24701000-24702400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:24701000-24702400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:24701000-24702400	Active TSS	Brain Cingulate Gyrus	brain
44	chr14:24701000-24702400	Active TSS	Brain Hippocampus Middle	brain
45	chr14:24701000-24702400	Active TSS	Brain Substantia Nigra	brain
46	chr14:24701000-24702400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr14:24701000-24702400	Active TSS	Fetal Lung	lung
48	chr14:24701000-24702400	Active TSS	Placenta Amnion	Placenta Amnion
49	chr14:24701000-24702400	Active TSS	Right Ventricle	heart
50	chr14:24701000-24702400	Active TSS	Sigmoid Colon	Sigmoid Colon

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