Variant report

Variant	rs7152342
Chromosome Location	chr14:24702897-24702898
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	POLR2A	chr14:24700737-24702955	HepG2	liver:	n/a	n/a
2	MYC	chr14:24701479-24702926	MCF10A-Er-Src	breast:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
3	TEAD4	chr14:24700683-24703165	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24700826-24702960	Raji	blood:	n/a	n/a
5	POLR2A	chr14:24700699-24703131	HepG2	liver:	n/a	n/a
6	RCOR1	chr14:24702712-24703105	K562	blood:	n/a	n/a
7	POLR2A	chr14:24701136-24703242	K562	blood:	n/a	n/a
8	POLR2A	chr14:24701007-24702903	GM18505	blood:	n/a	n/a
9	POLR2A	chr14:24700878-24702986	HUVEC	blood vessel:	n/a	n/a
10	NFIC	chr14:24700768-24703039	HepG2	liver:	n/a	n/a
11	MTA3	chr14:24700727-24702963	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:24700698-24703149	ECC-1	luminal epithelium:	n/a	n/a
13	RCOR1	chr14:24702724-24703027	K562	blood:	n/a	n/a
14	POLR2A	chr14:24700829-24709886	GM12891	blood:	n/a	n/a
15	SREBP1	chr14:24700270-24703407	GM12878	blood:	n/a	n/a
16	NFIC	chr14:24700344-24703095	HepG2	liver:	n/a	n/a
17	HEY1	chr14:24700529-24703046	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:24701083-24702906	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr14:24700678-24703036	MCF-7	breast:	n/a	chr14:24701607-24701617 chr14:24700699-24700709 chr14:24700696-24700705 chr14:24702039-24702048
20	POLR2A	chr14:24701075-24702965	ProgFib	skin:	n/a	n/a
21	POLR2A	chr14:24700675-24702965	GM12891	blood:	n/a	n/a
22	MBD4	chr14:24700393-24703151	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:24701097-24702923	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr14:24700632-24703023	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24700601-24703134	GM12892	blood:	n/a	n/a
26	POLR2A	chr14:24701760-24702928	A549	lung:	n/a	n/a
27	EP300	chr14:24702690-24703080	K562	blood:	n/a	n/a
28	POLR2A	chr14:24700875-24702917	GM19193	blood:	n/a	n/a
29	POLR2A	chr14:24701243-24702918	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:24700910-24703107	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:24699754-24707843	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr14:24700710-24702918	K562	blood:	n/a	n/a
33	ELF1	chr14:24700601-24702991	MCF-7	breast:	n/a	chr14:24701574-24701583 chr14:24701573-24701584 chr14:24700733-24700744 chr14:24702044-24702055 chr14:24701573-24701584 chr14:24701532-24701541
34	POLR2A	chr14:24702669-24702959	Hela-S3	cervix:	n/a	n/a
35	MYBL2	chr14:24700998-24703562	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:24701176-24702962	PBDE	blood:	n/a	n/a
37	GATA3	chr14:24702704-24703070	SH-SY5Y	brain:	n/a	chr14:24702960-24702967 chr14:24702954-24702966 chr14:24702851-24702858
38	STAT5A	chr14:24701105-24702948	GM12878	blood:	n/a	chr14:24701600-24701612 chr14:24701601-24701613 chr14:24701602-24701614 chr14:24701597-24701609 chr14:24702087-24702099 chr14:24701599-24701611 chr14:24701603-24701615
39	POLR2A	chr14:24701214-24703003	GM12892	blood:	n/a	n/a
40	POLR2A	chr14:24700765-24702924	Hela-S3	cervix:	n/a	n/a
41	GATA2	chr14:24702514-24702984	SH-SY5Y	brain:	n/a	chr14:24702960-24702967 chr14:24702954-24702966 chr14:24702851-24702858
42	POLR2A	chr14:24700645-24702920	HL-60	blood:	n/a	n/a
43	GABPA	chr14:24700715-24702940	MCF-7	breast:	n/a	chr14:24702091-24702100
44	GABPA	chr14:24700646-24702976	MCF-7	breast:	n/a	chr14:24702091-24702100
45	POLR2A	chr14:24700532-24703114	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr14:24700961-24702920	GM18951	blood:	n/a	n/a
47	CHD2	chr14:24702763-24702902	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:24701092-24703023	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr14:24700092-24709898	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr14:24700745-24703102	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24700875..24703033-chr14:24898892..24902478,3	MCF-7	breast:
2	chr14:24702582..24706480-chr14:24770203..24773016,3	K562	blood:
3	chr14:24701050..24705855-chr14:24766597..24769956,4	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	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
8	chr14:24582318..24585060-chr14:24701841..24703415,2	K562	blood:
9	chr14:24700052..24703046-chr14:24899147..24901202,2	K562	blood:
10	chr14:24544738..24546942-chr14:24701950..24703617,2	MCF-7	breast:
11	chr14:24527708..24530039-chr14:24700463..24703300,2	K562	blood:
12	chr14:24505359..24507247-chr14:24702110..24704400,2	MCF-7	breast:
13	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
14	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
15	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
ENSG00000259522	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100897	Chromatin interaction

rs_ID	r²[population]
rs10132601	1.00[MEX][hapmap]
rs10147702	1.00[MEX][hapmap]
rs10148135	1.00[MEX][hapmap]
rs11574504	1.00[MEX][hapmap]
rs17102191	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	chr14:24700200-24703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:24700400-24703000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:24700400-24703200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:24700400-24703200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:24700400-24703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:24700600-24703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:24701200-24703400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:24701800-24703000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:24701800-24703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:24702000-24703000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:24702000-24703000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr14:24702000-24703000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:24702000-24703200	Flanking Active TSS	HUVEC	blood vessel
15	chr14:24702000-24703400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:24702000-24703600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr14:24702200-24703000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:24702200-24703000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:24702200-24703000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:24702200-24703000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:24702200-24703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr14:24702200-24703000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:24702200-24703000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr14:24702200-24703000	Flanking Active TSS	Pancreas	Pancrea
25	chr14:24702200-24703000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:24702200-24703000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr14:24702200-24703000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:24702200-24703000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr14:24702200-24703000	Flanking Active TSS	HMEC	breast
30	chr14:24702200-24703000	Flanking Active TSS	NH-A	brain
31	chr14:24702200-24703200	Flanking Active TSS	Liver	Liver
32	chr14:24702200-24703200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr14:24702200-24703200	Flanking Active TSS	Hela-S3	cervix
34	chr14:24702200-24703200	Flanking Active TSS	HSMMtube	muscle
35	chr14:24702200-24703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr14:24702200-24703200	Flanking Active TSS	NHEK	skin
37	chr14:24702200-24703200	Flanking Active TSS	Osteobl	bone
38	chr14:24702200-24703400	Flanking Active TSS	Dnd41	blood
39	chr14:24702200-24703600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:24702400-24703000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:24702400-24703000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:24702400-24703000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr14:24702400-24703000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:24702400-24703000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:24702400-24703000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr14:24702400-24703000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr14:24702400-24703000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr14:24702400-24703000	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr14:24702400-24703000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:24702400-24703000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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