Variant report

Variant	rs12324564
Chromosome Location	chr15:41836565-41836566
allele	C/G/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	NFATC1	chr15:41836284-41836653	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:41836111-41837158	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr15:41836056-41836699	Hela-S3	cervix:	n/a	n/a
4	TAF7	chr15:41836006-41836697	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr15:41836077-41836683	K562	blood:	n/a	n/a
6	ELF1	chr15:41836049-41836716	GM12878	blood:	n/a	chr15:41836470-41836479
7	GABPA	chr15:41835820-41836692	MCF-7	breast:	n/a	n/a
8	IRF1	chr15:41836225-41836643	K562	blood:	n/a	chr15:41836504-41836518
9	MYC	chr15:41836129-41836574	MCF-7	breast:	n/a	n/a
10	GATA3	chr15:41836310-41836701	T-47D	breast:	n/a	chr15:41836523-41836530 chr15:41836523-41836530 chr15:41836523-41836530
11	ZMIZ1	chr15:41836343-41836620	K562	blood:	n/a	n/a
12	CHD2	chr15:41836060-41836612	GM12878	blood:	n/a	n/a
13	TAF1	chr15:41836211-41836624	GM12891	blood:	n/a	n/a
14	POLR2A	chr15:41836188-41836730	GM12891	blood:	n/a	n/a
15	RAD21	chr15:41836369-41836707	SK-N-SH_RA	brain:	n/a	chr15:41836437-41836449
16	ATF2	chr15:41836140-41836632	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr15:41835923-41836705	GM12892	blood:	n/a	chr15:41836500-41836511 chr15:41836439-41836447 chr15:41836470-41836479 chr15:41836434-41836443 chr15:41836441-41836449 chr15:41836438-41836460 chr15:41836438-41836448
18	GABPA	chr15:41836101-41836681	K562	blood:	n/a	n/a
19	YY1	chr15:41836020-41836715	HepG2	liver:	n/a	chr15:41836500-41836511 chr15:41836439-41836447 chr15:41836470-41836479 chr15:41836434-41836443 chr15:41836441-41836449 chr15:41836438-41836460 chr15:41836438-41836448
20	MAX	chr15:41835959-41836682	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr15:41836049-41836719	HL-60	blood:	n/a	chr15:41836570-41836583 chr15:41836575-41836585 chr15:41836567-41836587
22	MAX	chr15:41836074-41837132	NB4	blood:	n/a	n/a
23	POLR2A	chr15:41835908-41836890	K562	blood:	n/a	n/a
24	HEY1	chr15:41836161-41836724	K562	blood:	n/a	chr15:41836582-41836597
25	GTF2F1	chr15:41836021-41836658	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr15:41835996-41836714	A549	lung:	n/a	n/a
27	POLR2A	chr15:41836045-41836764	Raji	blood:	n/a	n/a
28	TCF12	chr15:41836276-41836622	GM12878	blood:	n/a	n/a
29	STAT5A	chr15:41836100-41836740	K562	blood:	n/a	chr15:41836508-41836520
30	POLR2A	chr15:41836118-41836755	K562	blood:	n/a	n/a
31	YY1	chr15:41836054-41836646	GM12892	blood:	n/a	chr15:41836500-41836511 chr15:41836439-41836447 chr15:41836470-41836479 chr15:41836434-41836443 chr15:41836441-41836449 chr15:41836438-41836460 chr15:41836438-41836448
32	REST	chr15:41836150-41836704	H1-neurons	neurons:	n/a	chr15:41836570-41836583 chr15:41836575-41836585 chr15:41836567-41836587
33	POLR2A	chr15:41836235-41836744	GM10847	blood:	n/a	n/a
34	BHLHE40	chr15:41836011-41836700	K562	blood:	n/a	n/a
35	YY1	chr15:41836103-41836645	K562	blood:	n/a	chr15:41836500-41836511 chr15:41836439-41836447 chr15:41836470-41836479 chr15:41836434-41836443 chr15:41836441-41836449 chr15:41836438-41836460 chr15:41836438-41836448
36	KAP1	chr15:41836190-41836685	U2OS	brain:	n/a	n/a
37	EP300	chr15:41836346-41836613	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr15:41836174-41836756	GM19193	blood:	n/a	n/a
39	E2F6	chr15:41836329-41836612	K562	blood:	n/a	n/a
40	POLR2A	chr15:41836063-41836646	H1-hESC	embryonic stem cell:	n/a	n/a
41	HCFC1	chr15:41835599-41837113	Hela-S3	cervix:	n/a	n/a
42	GTF2B	chr15:41836177-41836640	K562	blood:	n/a	n/a
43	MTA3	chr15:41835889-41836668	GM12878	blood:	n/a	n/a
44	GATA1	chr15:41836222-41836717	PBDE	blood:	n/a	chr15:41836523-41836530 chr15:41836523-41836530 chr15:41836523-41836530
45	ETS1	chr15:41836186-41836626	K562	blood:	n/a	chr15:41836507-41836520 chr15:41836470-41836481
46	SPI1	chr15:41836362-41836673	GM12878	blood:	n/a	n/a
47	GABPA	chr15:41836213-41836638	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr15:41836070-41836726	IMR90	lung:	n/a	n/a
49	MYC	chr15:41836205-41837008	NB4	blood:	n/a	n/a
50	HEY1	chr15:41835952-41836620	K562	blood:	n/a	chr15:41836582-41836597

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41836520-41836570	AoSMC	blood vessel:	n/a
2	chr15:41836520-41836570	GM12892	blood:	n/a
3	chr15:41836520-41836570	NH-A	brain:	n/a
4	chr15:41836520-41836570	HIPEpiC	eye:	n/a
5	chr15:41836520-41836570	CMK	blood:	n/a
6	chr15:41836520-41836570	ovcar-3	ovarian:	n/a
7	chr15:41836520-41836570	LNCaP	prostate:	n/a
8	chr15:41836520-41836570	GM19239	blood:	n/a
9	chr15:41836520-41836570	AG04450	lung:	fetal
10	chr15:41836520-41836570	Hela-S3	cervix:	n/a
11	chr15:41836520-41836570	GM12878	blood:	n/a
12	chr15:41836520-41836570	HCF	heart:	n/a
13	chr15:41836520-41836570	HMEC	breast:	n/a
14	chr15:41836520-41836570	BJ	skin:	n/a
15	chr15:41836520-41836570	Hepatocyte	liver:	n/a
16	chr15:41836520-41836570	HL-60	blood:	n/a
17	chr15:41836520-41836570	RPTEC	kidney:	n/a
18	chr15:41836520-41836570	AG09309	skin:	n/a
19	chr15:41836520-41836570	GM12891	blood:	n/a
20	chr15:41836520-41836570	HCT-116	colon:	n/a
21	chr15:41836520-41836570	HRCEpiC	kidney:	n/a
22	chr15:41836520-41836570	IMR90	lung:	fetal
23	chr15:41836520-41836570	SK-N-SH	brain:	n/a
24	chr15:41836520-41836570	NT2-D1	testis:	n/a
25	chr15:41836520-41836570	SK-N-SH_RA	brain:	n/a
26	chr15:41836520-41836570	ProgFib	skin:	n/a
27	chr15:41836520-41836570	AG09319	gingival:	n/a
28	chr15:41836520-41836570	HepG2	liver:	n/a
29	chr15:41836520-41836570	ECC-1	luminal epithelium:	n/a
30	chr15:41836520-41836570	SK-N-MC	brain:	n/a
31	chr15:41836520-41836570	HEK293	kidney:	embryo
32	chr15:41836520-41836570	SAEC	small airway:	n/a
33	chr15:41836520-41836570	Jurkat	blood:	n/a
34	chr15:41836520-41836570	AG04449	skin:	fetal
35	chr15:41836520-41836570	NB4	blood:	n/a
36	chr15:41836520-41836570	HNPCEpiC	eye:	n/a
37	chr15:41836520-41836570	GM06990	blood:	n/a
38	chr15:41836520-41836570	T-47D	breast:	n/a
39	chr15:41836520-41836570	HPAEpiC	pulmonary alveolar:	n/a
40	chr15:41836520-41836570	K562	blood:	n/a
41	chr15:41836520-41836570	HUVEC	blood vessel:	n/a
42	chr15:41836520-41836570	SKMC	muscle:	n/a
43	chr15:41836520-41836570	BE2_C	brain:	n/a
44	chr15:41836520-41836570	PANC-1	pancreas:	n/a
45	chr15:41836520-41836570	HAEpiC	amniotic membrane:	n/a
46	chr15:41836520-41836570	MCF-7	breast:	n/a
47	chr15:41836520-41836570	NHBE	bronchial:	n/a
48	chr15:41836520-41836570	U87	brain:	n/a
49	chr15:41836520-41836570	HRPEpiC	eye:	n/a
50	chr15:41836520-41836570	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:62609094..62609648-chr15:41836152..41836752,2	Hela-S3	cervix:
2	chr15:41836247..41836747-chr2:128615430..128615948,2	NB4	blood:
3	chr15:41827251..41831779-chr15:41832424..41837409,12	K562	blood:
4	chr15:41785172..41787151-chr15:41835585..41837884,2	MCF-7	breast:
5	chr15:41834571..41836708-chr15:41849262..41851156,2	K562	blood:
6	chr15:41835713..41840265-chr15:41851401..41853463,4	K562	blood:
7	chr15:41784771..41788118-chr15:41836495..41840463,4	K562	blood:
8	chr15:41836113..41836929-chr9:140135486..140135990,2	HCT-116	colon:
9	chr13:111364110..111365010-chr15:41836304..41837033,2	NB4	blood:
10	chr15:41836411..41836975-chr5:179050328..179051025,2	HCT-116	colon:
11	chr15:41783980..41786928-chr15:41835398..41839034,5	K562	blood:
12	chr15:41784244..41787186-chr15:41835793..41838130,2	MCF-7	breast:
13	chr15:41835700..41837704-chr15:42118864..42120391,2	K562	blood:
14	chr15:41812182..41819156-chr15:41830894..41838104,9	K562	blood:
15	chr15:41407191..41409421-chr15:41835564..41837898,2	MCF-7	breast:
16	chr15:41836090..41836866-chr19:17905832..17906456,2	Hela-S3	cervix:

Variant related genes	Relation type
RPAP1	TF binding region
RPAP1	CpG island
ENSG00000169045	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000144231	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000168970	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000243789	Chromatin interaction
ENSG00000250379	Chromatin interaction
ENSG00000137825	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000179913	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000092445	Chromatin interaction

rs_ID	r²[population]
rs2026947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35227875	1.00[AFR][1000 genomes]
rs72739627	1.00[AFR][1000 genomes]
rs72739660	1.00[AFR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41835000-41836800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:41835000-41837000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:41835000-41837000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:41835200-41836800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:41835200-41836800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr15:41835200-41836800	Active TSS	NHLF	lung
7	chr15:41835200-41837000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:41835400-41836800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:41835400-41836800	Active TSS	K562	blood
10	chr15:41835400-41837000	Active TSS	GM12878-XiMat	blood
11	chr15:41835400-41837000	Active TSS	HepG2	liver
12	chr15:41835600-41836600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:41835600-41836600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:41835600-41836800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:41835600-41836800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:41835600-41836800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:41835600-41836800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:41835600-41836800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:41835600-41836800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr15:41835600-41836800	Active TSS	Fetal Brain Female	brain
21	chr15:41835600-41836800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr15:41835600-41836800	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr15:41835600-41836800	Active TSS	NHDF-Ad	bronchial
24	chr15:41835600-41836800	Active TSS	NHEK	skin
25	chr15:41835600-41837000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr15:41835600-41837000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:41835600-41837000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:41835600-41837000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:41835600-41837000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:41835600-41837000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:41835600-41837000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:41835600-41837000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:41835600-41837000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:41835600-41837000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:41835600-41837000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:41835600-41837000	Active TSS	A549	lung
37	chr15:41835600-41837000	Active TSS	HSMM	muscle
38	chr15:41835600-41837000	Active TSS	HSMMtube	muscle
39	chr15:41835800-41836600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr15:41835800-41836600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:41835800-41836600	Active TSS	Esophagus	oesophagus
42	chr15:41835800-41836600	Active TSS	Gastric	stomach
43	chr15:41835800-41836600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr15:41835800-41836800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:41835800-41836800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:41835800-41836800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr15:41835800-41836800	Active TSS	Aorta	Aorta
48	chr15:41835800-41836800	Active TSS	Fetal Kidney	kidney
49	chr15:41835800-41836800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:41835800-41836800	Active TSS	Left Ventricle	heart

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