Variant report

Variant	rs74149318
Chromosome Location	chr10:93683220-93683221
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	MAX	chr10:93683199-93683921	HepG2	liver:	n/a	chr10:93683704-93683713
2	POLR2A	chr10:93683030-93684028	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:93682911-93683915	ECC-1	luminal epithelium:	n/a	n/a
4	ELF1	chr10:93683098-93683686	K562	blood:	n/a	chr10:93683604-93683616
5	POLR2A	chr10:93683117-93683919	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr10:93683014-93684047	A549	lung:	n/a	chr10:93683704-93683713
7	POLR2A	chr10:93682590-93684071	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:93683007-93683996	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr10:93683040-93683983	K562	blood:	n/a	chr10:93683704-93683713
10	POLR2A	chr10:93683163-93684135	K562	blood:	n/a	n/a
11	POLR2A	chr10:93683023-93683930	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr10:93682914-93683924	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr10:93682902-93684198	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:93682894-93684761	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr10:93683079-93683919	K562	blood:	n/a	chr10:93683704-93683713
16	TCF12	chr10:93683057-93684051	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr10:93682987-93683955	GM12878	blood:	n/a	n/a
18	IRF1	chr10:93683090-93683812	K562	blood:	n/a	chr10:93683293-93683307
19	POLR2A	chr10:93683001-93683741	K562	blood:	n/a	n/a
20	ELF1	chr10:93683109-93683636	HepG2	liver:	n/a	chr10:93683604-93683616
21	TBP	chr10:93683123-93683785	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:93683015-93683772	GM12891	blood:	n/a	n/a
23	POLR2A	chr10:93682438-93684239	HepG2	liver:	n/a	n/a
24	SIX5	chr10:93682862-93683685	A549	lung:	n/a	n/a
25	TAF7	chr10:93683204-93683914	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr10:93683145-93683872	GM12878	blood:	n/a	chr10:93683604-93683616
27	POLR2A	chr10:93682868-93683859	K562	blood:	n/a	n/a
28	POLR2A	chr10:93683023-93683909	GM12892	blood:	n/a	n/a
29	E2F6	chr10:93682856-93683928	H1-hESC	embryonic stem cell:	n/a	chr10:93683451-93683458 chr10:93683017-93683026 chr10:93683461-93683468
30	POLR2A	chr10:93683006-93684205	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr10:93683065-93684045	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr10:93682878-93685018	IMR90	lung:	n/a	n/a
33	MYC	chr10:93683196-93683795	HepG2	liver:	n/a	chr10:93683704-93683713
34	POLR2A	chr10:93682978-93684562	PBDE	blood:	n/a	n/a
35	MAX	chr10:93683017-93684062	ECC-1	luminal epithelium:	n/a	chr10:93683704-93683713
36	TBP	chr10:93683077-93684163	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr10:93682910-93684099	Hela-S3	cervix:	n/a	n/a
38	EP300	chr10:93683149-93683782	HepG2	liver:	n/a	chr10:93683642-93683658 chr10:93683506-93683513 chr10:93683736-93683752
39	POLR2A	chr10:93683112-93683849	GM10847	blood:	n/a	n/a
40	POLR2A	chr10:93682787-93683796	K562	blood:	n/a	n/a
41	ELF1	chr10:93683195-93684030	GM12878	blood:	n/a	chr10:93683604-93683616
42	POLR2A	chr10:93683000-93684104	K562	blood:	n/a	n/a
43	BHLHE40	chr10:93683042-93683786	HepG2	liver:	n/a	chr10:93683712-93683728
44	POLR2A	chr10:93683074-93683983	GM12891	blood:	n/a	n/a
45	POLR2A	chr10:93683127-93683822	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr10:93683013-93684049	MCF-7	breast:	n/a	chr10:93683704-93683713
47	RFX5	chr10:93683197-93683747	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr10:93683084-93683919	PANC-1	pancreas:	n/a	n/a
49	MAX	chr10:93683090-93683648	K562	blood:	n/a	n/a
50	E2F6	chr10:93682961-93683999	A549	lung:	n/a	chr10:93683451-93683458 chr10:93683017-93683026 chr10:93683461-93683468

No.	Distal block	Cell Line	Cell type
1	chr10:93666065..93670682-chr10:93680624..93684315,6	K562	blood:
2	chr10:93683014..93683556-chr12:25347907..25348654,2	NB4	blood:
3	chr10:93667092..93669492-chr10:93682952..93684892,2	MCF-7	breast:
4	chr10:93683104..93683979-chr7:35839863..35840835,2	Hela-S3	cervix:
5	chr10:93683168..93684005-chr7:104653154..104654047,2	Hela-S3	cervix:
6	chr1:193074188..193074858-chr10:93683004..93683859,2	Hela-S3	cervix:
7	chr10:93668102..93670664-chr10:93683184..93685213,2	K562	blood:
8	chr10:93666676..93671284-chr10:93682037..93685018,8	MCF-7	breast:
9	chr10:93676495..93679722-chr10:93681322..93683503,3	MCF-7	breast:
10	chr10:93683034..93683876-chr5:14871412..14872027,2	Hela-S3	cervix:

Variant related genes	Relation type
BTAF1	TF binding region
ENSG00000154122	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000205707	Chromatin interaction
ENSG00000228878	Chromatin interaction
ENSG00000174721	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000122545	Chromatin interaction
ENSG00000118307	Chromatin interaction
ENSG00000272817	Chromatin interaction

rs_ID	r²[population]
rs11186754	0.88[AFR][1000 genomes]
rs11186763	0.81[AFR][1000 genomes]
rs17107215	1.00[AMR][1000 genomes]
rs17107230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107237	0.81[AFR][1000 genomes]
rs17107245	1.00[AMR][1000 genomes]
rs2421795	0.83[AFR][1000 genomes]
rs59490443	0.81[AFR][1000 genomes]
rs60926179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7074133	0.83[AFR][1000 genomes]
rs74149319	0.88[AFR][1000 genomes]
rs74149337	0.91[AFR][1000 genomes]
rs74149340	0.84[AFR][1000 genomes]
rs74149341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149344	0.91[AFR][1000 genomes]
rs74149345	0.91[AFR][1000 genomes]
rs74149346	0.91[AFR][1000 genomes]
rs74149347	0.91[AFR][1000 genomes]
rs74149348	0.91[AFR][1000 genomes]
rs74149349	0.91[AFR][1000 genomes]
rs74149350	0.91[AFR][1000 genomes]
rs74149351	0.91[AFR][1000 genomes]
rs74149352	0.83[AFR][1000 genomes]
rs74149353	0.83[AFR][1000 genomes]
rs74149354	0.83[AFR][1000 genomes]

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93682400-93685200	Active TSS	K562	blood
2	chr10:93682600-93683400	Flanking Active TSS	Dnd41	blood
3	chr10:93682800-93683400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr10:93682800-93683400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr10:93682800-93683400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr10:93682800-93683400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr10:93682800-93683400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:93682800-93683400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:93682800-93683400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:93682800-93683400	Flanking Active TSS	Hela-S3	cervix
11	chr10:93682800-93683400	Flanking Active TSS	NHEK	skin
12	chr10:93682800-93683400	Flanking Active TSS	Osteobl	bone
13	chr10:93682800-93683600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:93682800-93684200	Active TSS	Brain Hippocampus Middle	brain
15	chr10:93682800-93684200	Active TSS	Fetal Brain Female	brain
16	chr10:93682800-93684200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr10:93682800-93684400	Active TSS	Brain Germinal Matrix	brain
18	chr10:93682800-93684400	Active TSS	Colon Smooth Muscle	Colon
19	chr10:93682800-93684400	Active TSS	Rectal Smooth Muscle	rectum
20	chr10:93682800-93684400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:93682800-93684600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:93682800-93684800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr10:93682800-93684800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:93682800-93684800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:93682800-93684800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:93682800-93684800	Active TSS	NHLF	lung
27	chr10:93682800-93685000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr10:93682800-93685000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:93682800-93685000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:93682800-93685000	Active TSS	NHDF-Ad	bronchial
31	chr10:93682800-93685200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:93682800-93685200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:93682800-93685200	Active TSS	HMEC	breast
34	chr10:93682800-93685600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:93682800-93685600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:93682800-93685600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:93682800-93685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:93682800-93689400	Active TSS	GM12878-XiMat	blood
39	chr10:93683000-93683400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr10:93683000-93683400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:93683000-93683400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr10:93683000-93683400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr10:93683000-93683400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr10:93683000-93683400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr10:93683000-93683400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr10:93683000-93683400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:93683000-93683400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr10:93683000-93683400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr10:93683000-93683400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:93683000-93683400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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