Variant report

Variant	rs28673535
Chromosome Location	chr14:24701012-24701013
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	POLR2A	chr14:24700737-24702955	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24700753-24701089	GM12878	blood:	n/a	n/a
3	SMARCC2	chr14:24700888-24702439	Hela-S3	cervix:	n/a	chr14:24701823-24701832 chr14:24701774-24701783
4	TAF1	chr14:24700734-24702481	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:24700942-24702251	H1-neurons	neurons:	n/a	n/a
6	USF2	chr14:24700829-24701273	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr14:24700683-24703165	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24700826-24702960	Raji	blood:	n/a	n/a
9	POLR2A	chr14:24700699-24703131	HepG2	liver:	n/a	n/a
10	NR2C2	chr14:24700839-24702524	HepG2	liver:	n/a	chr14:24701576-24701585
11	POLR2A	chr14:24700929-24702419	NB4	blood:	n/a	n/a
12	POLR2A	chr14:24701007-24702903	GM18505	blood:	n/a	n/a
13	POLR2A	chr14:24700782-24702888	Hela-S3	cervix:	n/a	n/a
14	HEY1	chr14:24700679-24702388	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:24700878-24702986	HUVEC	blood vessel:	n/a	n/a
16	NFIC	chr14:24700768-24703039	HepG2	liver:	n/a	n/a
17	MTA3	chr14:24700727-24702963	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:24700698-24703149	ECC-1	luminal epithelium:	n/a	n/a
19	GABPA	chr14:24700971-24702597	A549	lung:	n/a	chr14:24702091-24702100
20	POLR2A	chr14:24700733-24701069	GM12891	blood:	n/a	n/a
21	POLR2A	chr14:24700829-24709886	GM12891	blood:	n/a	n/a
22	SREBP1	chr14:24700270-24703407	GM12878	blood:	n/a	n/a
23	NFIC	chr14:24700344-24703095	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:24700958-24702514	IMR90	lung:	n/a	n/a
25	HEY1	chr14:24700529-24703046	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24700737-24701576	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:24700679-24702524	K562	blood:	n/a	n/a
28	MAFK	chr14:24700997-24701154	HepG2	liver:	n/a	n/a
29	GABPA	chr14:24700754-24702376	K562	blood:	n/a	chr14:24702091-24702100
30	MAX	chr14:24700678-24703036	MCF-7	breast:	n/a	chr14:24701607-24701617 chr14:24700699-24700709 chr14:24700696-24700705 chr14:24702039-24702048
31	POLR2A	chr14:24700766-24702625	GM12878	blood:	n/a	n/a
32	NR2C2	chr14:24700790-24702400	Hela-S3	cervix:	n/a	chr14:24701576-24701585
33	POLR2A	chr14:24700675-24702965	GM12891	blood:	n/a	n/a
34	MBD4	chr14:24700393-24703151	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:24700632-24703023	GM12878	blood:	n/a	n/a
36	MAX	chr14:24700990-24702689	A549	lung:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
37	POLR2A	chr14:24700779-24702343	K562	blood:	n/a	n/a
38	POLR2A	chr14:24700601-24703134	GM12892	blood:	n/a	n/a
39	MYC	chr14:24700827-24702389	K562	blood:	n/a	chr14:24701607-24701617 chr14:24702039-24702048
40	POLR2A	chr14:24700994-24702526	GM18526	blood:	n/a	n/a
41	POLR2A	chr14:24700875-24702917	GM19193	blood:	n/a	n/a
42	POLR2A	chr14:24700861-24702466	Hela-S3	cervix:	n/a	n/a
43	SIN3A	chr14:24700833-24702606	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:24700845-24702750	HL-60	blood:	n/a	n/a
45	POLR2A	chr14:24700910-24703107	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:24699754-24707843	MCF10A-Er-Src	breast:	n/a	n/a
47	HCFC1	chr14:24700489-24702682	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:24700710-24702918	K562	blood:	n/a	n/a
49	CTCF	chr14:24700980-24701130	GM12874	blood:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr14:24698279..24701346-chr14:24909291..24912292,3	MCF-7	breast:
2	chr14:24700875..24703033-chr14:24898892..24902478,3	MCF-7	breast:
3	chr14:24657518..24659556-chr14:24700250..24703163,3	K562	blood:
4	chr14:24681838..24686459-chr14:24698203..24703209,7	K562	blood:
5	chr14:24605251..24607520-chr14:24700046..24702843,4	MCF-7	breast:
6	chr14:24614827..24617207-chr14:24699385..24702820,4	MCF-7	breast:
7	chr14:24700052..24703046-chr14:24899147..24901202,2	K562	blood:
8	chr14:24527708..24530039-chr14:24700463..24703300,2	K562	blood:
9	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
10	chr14:24663376..24665996-chr14:24700353..24703613,3	K562	blood:
11	chr14:24582814..24585295-chr14:24699892..24701976,2	MCF-7	breast:
12	chr14:24609208..24611356-chr14:24699295..24702629,3	MCF-7	breast:
13	chr14:24700462..24703235-chr14:24790000..24792111,3	MCF-7	breast:

Variant related genes	Relation type
GMPR2	TF binding region
ENSG00000100911	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000129467	Chromatin interaction

rs_ID	r²[population]
rs10132601	1.00[AMR][1000 genomes]
rs10136189	1.00[AMR][1000 genomes]
rs10136840	1.00[AMR][1000 genomes]
rs10137012	1.00[AMR][1000 genomes]
rs10138628	1.00[AMR][1000 genomes]
rs10139890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148135	1.00[AMR][1000 genomes]
rs10150403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151593	1.00[AMR][1000 genomes]
rs11574504	1.00[AMR][1000 genomes]
rs28420107	1.00[AMR][1000 genomes]
rs28473777	1.00[AMR][1000 genomes]
rs28482359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28528158	1.00[AMR][1000 genomes]
rs28604959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28625516	1.00[AMR][1000 genomes]
rs28674477	1.00[AMR][1000 genomes]
rs28810793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28861824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55754036	1.00[AMR][1000 genomes]
rs74037010	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	chr14:24700000-24701800	Active TSS	NHEK	skin
2	chr14:24700000-24703000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:24700200-24701200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:24700200-24701200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24700200-24701200	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr14:24700200-24701200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr14:24700200-24701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:24700200-24702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:24700200-24702800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:24700200-24702800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:24700200-24703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:24700400-24701200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:24700400-24701200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr14:24700400-24701200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr14:24700400-24701200	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr14:24700400-24701200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr14:24700400-24701200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr14:24700400-24701200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr14:24700400-24701200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr14:24700400-24701200	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr14:24700400-24701200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:24700400-24701400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:24700400-24701400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:24700400-24701400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:24700400-24702200	Active TSS	HMEC	breast
26	chr14:24700400-24702200	Active TSS	HSMMtube	muscle
27	chr14:24700400-24702200	Active TSS	K562	blood
28	chr14:24700400-24702200	Active TSS	NH-A	brain
29	chr14:24700400-24702400	Active TSS	Fetal Intestine Small	intestine
30	chr14:24700400-24702400	Active TSS	NHLF	lung
31	chr14:24700400-24702600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:24700400-24702600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:24700400-24703000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:24700400-24703200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr14:24700400-24703200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:24700400-24703200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr14:24700600-24701200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:24700600-24701200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:24700600-24701200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:24700600-24701200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr14:24700600-24701200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:24700600-24701200	Flanking Active TSS	Liver	Liver
43	chr14:24700600-24701200	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr14:24700600-24701200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:24700600-24701200	Flanking Active TSS	Esophagus	oesophagus
46	chr14:24700600-24701200	Flanking Active TSS	Fetal Brain Female	brain
47	chr14:24700600-24701200	Flanking Active TSS	Fetal Stomach	stomach
48	chr14:24700600-24701200	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:24700600-24701200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:24700600-24701200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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