Variant report

Variant	rs57815447
Chromosome Location	chr15:49462638-49462639
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	chr15:49462051-49463124	Hela-S3	cervix:	n/a	n/a
2	SP1	chr15:49461992-49462714	A549	lung:	n/a	chr15:49462335-49462346
3	POLR2A	chr15:49461990-49464280	K562	blood:	n/a	n/a
4	USF1	chr15:49461960-49462646	K562	blood:	n/a	n/a
5	ELF1	chr15:49462051-49462787	K562	blood:	n/a	n/a
6	MYC	chr15:49462003-49463251	NB4	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
7	CHD2	chr15:49461980-49462799	K562	blood:	n/a	n/a
8	YY1	chr15:49462113-49462773	K562	blood:	n/a	n/a
9	RCOR1	chr15:49462096-49462870	Hela-S3	cervix:	n/a	n/a
10	ZEB1	chr15:49462085-49462728	GM12878	blood:	n/a	n/a
11	E2F4	chr15:49462049-49462746	MCF10A-Er-Src	breast:	n/a	n/a
12	USF2	chr15:49462152-49462665	HepG2	liver:	n/a	n/a
13	MYC	chr15:49461995-49462877	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
14	WRNIP1	chr15:49462427-49462776	GM12878	blood:	n/a	n/a
15	MAX	chr15:49462031-49462941	SK-N-SH	brain:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
16	MAX	chr15:49461830-49462919	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
17	POLR2A	chr15:49462033-49462721	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr15:49462059-49462887	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
19	MXI1	chr15:49462079-49462870	H1-hESC	embryonic stem cell:	n/a	chr15:49462708-49462717 chr15:49462710-49462719
20	IRF1	chr15:49461776-49463264	K562	blood:	n/a	chr15:49462129-49462143
21	TBP	chr15:49462121-49462781	HepG2	liver:	n/a	n/a
22	TAF1	chr15:49461974-49462780	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr15:49462052-49462769	HUVEC	blood vessel:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
24	RAD21	chr15:49462266-49462741	Hela-S3	cervix:	n/a	n/a
25	BHLHE40	chr15:49461793-49463107	K562	blood:	n/a	n/a
26	GTF2F1	chr15:49462109-49462978	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:49461948-49462970	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr15:49462176-49462775	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr15:49461983-49462878	K562	blood:	n/a	n/a
30	POLR2A	chr15:49462040-49462819	GM18526	blood:	n/a	n/a
31	CEBPD	chr15:49462015-49462753	K562	blood:	n/a	n/a
32	RFX5	chr15:49462166-49463076	Hela-S3	cervix:	n/a	n/a
33	USF1	chr15:49462590-49462820	HepG2	liver:	n/a	chr15:49462707-49462718
34	MYC	chr15:49461964-49463465	K562	blood:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
35	HEY1	chr15:49462005-49462871	HepG2	liver:	n/a	chr15:49462709-49462718
36	ELK1	chr15:49462238-49462704	Hela-S3	cervix:	n/a	n/a
37	TBP	chr15:49461971-49462771	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr15:49461965-49463671	K562	blood:	n/a	n/a
39	USF1	chr15:49462280-49462760	SK-N-SH_RA	brain:	n/a	chr15:49462707-49462718
40	RFX5	chr15:49462216-49462663	HepG2	liver:	n/a	n/a
41	POLR2A	chr15:49461944-49463814	K562	blood:	n/a	n/a
42	POLR2A	chr15:49461989-49462874	K562	blood:	n/a	n/a
43	TAL1	chr15:49461767-49463069	K562	blood:	n/a	n/a
44	POLR2A	chr15:49462057-49462789	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr15:49462062-49462664	GM12878	blood:	n/a	n/a
46	MYC	chr15:49462070-49462786	HepG2	liver:	n/a	chr15:49462709-49462718 chr15:49462222-49462233 chr15:49462707-49462720 chr15:49462708-49462719
47	USF1	chr15:49461973-49462929	HCT-116	colon:	n/a	chr15:49462707-49462718
48	MAFF	chr15:49461972-49462866	K562	blood:	n/a	n/a
49	POLR2A	chr15:49461980-49462827	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:49462087-49462829	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:49462491..49464314-chr15:49469234..49471225,2	MCF-7	breast:
2	chr15:49461881..49462807-chr16:8961792..8962755,2	Hela-S3	cervix:
3	chr15:49287770..49290025-chr15:49461376..49464212,2	K562	blood:
4	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
5	chr15:49103040..49104751-chr15:49461062..49462834,2	K562	blood:
6	chr15:49461247..49464422-chr15:49530030..49534036,3	K562	blood:
7	chr11:67168670..67169414-chr15:49461835..49462824,2	Hela-S3	cervix:
8	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
9	chr15:49337641..49340367-chr15:49461061..49463741,3	MCF-7	breast:
10	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:

Variant related genes	Relation type
GALK2	TF binding region
MIR4716	TF binding region
ENSG00000103995	Chromatin interaction
ENSG00000259545	Chromatin interaction
ENSG00000166200	Chromatin interaction
ENSG00000138593	Chromatin interaction
ENSG00000207105	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000153048	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000259467	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431777	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070688	0.81[EUR][1000 genomes]
rs11070689	0.81[EUR][1000 genomes]
rs12594252	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1904315	0.81[EUR][1000 genomes]
rs2086255	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72727206	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72727208	0.83[ASN][1000 genomes]
rs72727209	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72727210	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72727218	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72727219	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72727221	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72727224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727243	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72727256	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72741962	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8031414	0.88[EUR][1000 genomes]
rs8039064	0.90[EUR][1000 genomes]
rs8043168	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49461800-49462800	Active TSS	Rectal Smooth Muscle	rectum
2	chr15:49461800-49463000	Active TSS	Brain Substantia Nigra	brain
3	chr15:49461800-49463200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr15:49461800-49463400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:49461800-49463400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:49461800-49463600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr15:49461800-49463800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr15:49461800-49464000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:49461800-49464400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:49462000-49463000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr15:49462000-49463000	Active TSS	Brain Anterior Caudate	brain
12	chr15:49462000-49463000	Active TSS	Fetal Stomach	stomach
13	chr15:49462000-49463000	Active TSS	Left Ventricle	heart
14	chr15:49462000-49463200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:49462000-49463200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr15:49462000-49463200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:49462000-49463200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr15:49462000-49463200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:49462000-49463200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:49462000-49463200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr15:49462000-49463200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:49462000-49463200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:49462000-49463200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr15:49462000-49463200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:49462000-49463200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr15:49462000-49463200	Active TSS	Aorta	Aorta
27	chr15:49462000-49463200	Active TSS	Brain Angular Gyrus	brain
28	chr15:49462000-49463200	Active TSS	Brain Germinal Matrix	brain
29	chr15:49462000-49463200	Active TSS	Brain Hippocampus Middle	brain
30	chr15:49462000-49463200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr15:49462000-49463200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:49462000-49463200	Active TSS	Colon Smooth Muscle	Colon
33	chr15:49462000-49463200	Enhancers	Fetal Heart	heart
34	chr15:49462000-49463200	Active TSS	Fetal Kidney	kidney
35	chr15:49462000-49463200	Active TSS	Fetal Muscle Trunk	muscle
36	chr15:49462000-49463200	Active TSS	Fetal Muscle Leg	muscle
37	chr15:49462000-49463200	Active TSS	Lung	lung
38	chr15:49462000-49463200	Active TSS	Psoas Muscle	Psoas
39	chr15:49462000-49463200	Active TSS	Right Atrium	heart
40	chr15:49462000-49463200	Active TSS	Right Ventricle	heart
41	chr15:49462000-49463200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:49462000-49463400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:49462000-49463400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:49462000-49463400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:49462000-49463400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr15:49462000-49463400	Active TSS	Colonic Mucosa	Colon
47	chr15:49462000-49463400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:49462000-49463400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr15:49462000-49463400	Flanking Active TSS	HUVEC	blood vessel
50	chr15:49462000-49463600	Active TSS	Muscle Satellite Cultured Cells	--

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