Variant report

Variant	rs34974852
Chromosome Location	chr15:40861965-40861966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK4	chr15:40861600-40862010	Hela-S3	cervix:	n/a	n/a
2	ELF1	chr15:40861332-40862180	MCF-7	breast:	n/a	n/a
3	E2F6	chr15:40861318-40861980	K562	blood:	n/a	n/a
4	SMC3	chr15:40861041-40862026	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr15:40860597-40862522	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:40861131-40862084	K562	blood:	n/a	n/a
7	CREB1	chr15:40861278-40861986	H1-hESC	embryonic stem cell:	n/a	chr15:40861485-40861498
8	MAX	chr15:40861278-40862304	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:40861190-40862158	GM18526	blood:	n/a	n/a
10	MXI1	chr15:40861229-40862021	HepG2	liver:	n/a	n/a
11	ELF1	chr15:40861398-40862009	K562	blood:	n/a	n/a
12	CREB1	chr15:40861179-40862180	GM12878	blood:	n/a	chr15:40861485-40861498
13	SIN3AK20	chr15:40861133-40862092	HCT-116	colon:	n/a	n/a
14	MAX	chr15:40861294-40862341	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr15:40861188-40862243	Hela-S3	cervix:	n/a	n/a
16	MAX	chr15:40861273-40862117	GM12878	blood:	n/a	n/a
17	YY1	chr15:40861389-40862018	HepG2	liver:	n/a	n/a
18	PML	chr15:40861181-40862239	GM12878	blood:	n/a	n/a
19	MAX	chr15:40861245-40862207	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr15:40861094-40862147	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr15:40861160-40862093	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:40861276-40862046	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr15:40861147-40862223	HepG2	liver:	n/a	chr15:40861485-40861498
24	MAX	chr15:40861260-40862229	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr15:40861289-40861969	K562	blood:	n/a	n/a
26	GTF2F1	chr15:40861174-40862549	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:40861335-40862171	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:40861176-40862060	NB4	blood:	n/a	n/a
29	MYC	chr15:40861217-40862325	NB4	blood:	n/a	n/a
30	POLR2A	chr15:40861148-40862053	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:40861137-40862666	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr15:40861263-40862117	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr15:40861069-40862121	K562	blood:	n/a	chr15:40861485-40861498
34	MAX	chr15:40861179-40862264	ECC-1	luminal epithelium:	n/a	n/a
35	MXI1	chr15:40861261-40862297	Hela-S3	cervix:	n/a	n/a
36	UBTF	chr15:40861487-40862122	K562	blood:	n/a	n/a
37	ZMIZ1	chr15:40861289-40861969	K562	blood:	n/a	n/a
38	POLR2A	chr15:40861156-40862101	K562	blood:	n/a	n/a
39	POLR2A	chr15:40861207-40862402	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:40861157-40862136	GM19099	blood:	n/a	n/a
41	POLR2A	chr15:40861173-40862052	GM12891	blood:	n/a	n/a
42	POLR2A	chr15:40861201-40862029	GM12891	blood:	n/a	n/a
43	YY1	chr15:40861333-40861965	K562	blood:	n/a	n/a
44	POLR2A	chr15:40861032-40862220	HUVEC	blood vessel:	n/a	n/a
45	REST	chr15:40861335-40861971	SK-N-SH	brain:	n/a	n/a
46	PAX5	chr15:40861385-40862054	GM12892	blood:	n/a	n/a
47	ELF1	chr15:40861223-40862127	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:40861169-40862304	GM12892	blood:	n/a	n/a
49	POLR2A	chr15:40861306-40862093	MCF-7	breast:	n/a	n/a
50	POLR2A	chr15:40861188-40862109	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40861963-40862013	HNPCEpiC	eye:	n/a
2	chr15:40861963-40862013	ECC-1	luminal epithelium:	n/a
3	chr15:40861963-40862013	T-47D	breast:	n/a
4	chr15:40861963-40862013	HL-60	blood:	n/a
5	chr15:40861963-40862013	GM12878	blood:	n/a
6	chr15:40861963-40862013	HRPEpiC	eye:	n/a
7	chr15:40861963-40862013	HUVEC	blood vessel:	n/a
8	chr15:40861963-40862013	HRE	kidney:	n/a
9	chr15:40861963-40862013	NB4	blood:	n/a
10	chr15:40861963-40862013	AoSMC	blood vessel:	n/a
11	chr15:40861963-40862013	AG04449	skin:	fetal
12	chr15:40861963-40862013	AG10803	skin:	n/a
13	chr15:40861963-40862013	H1-hESC	embryonic stem cell:	embryo
14	chr15:40861963-40862013	CMK	blood:	n/a
15	chr15:40861963-40862013	ovcar-3	ovarian:	n/a
16	chr15:40861963-40862013	HepG2	liver:	n/a
17	chr15:40861963-40862013	HAEpiC	amniotic membrane:	n/a
18	chr15:40861963-40862013	HRCEpiC	kidney:	n/a
19	chr15:40861963-40862013	Hela-S3	cervix:	n/a
20	chr15:40861963-40862013	HCF	heart:	n/a
21	chr15:40861963-40862013	PANC-1	pancreas:	n/a
22	chr15:40861963-40862013	RPTEC	kidney:	n/a
23	chr15:40861963-40862013	HEEpiC	esophagus:	n/a
24	chr15:40861963-40862013	NHBE	bronchial:	n/a
25	chr15:40861963-40862013	SKMC	muscle:	n/a
26	chr15:40861963-40862013	AG09319	gingival:	n/a
27	chr15:40861963-40862013	GM12891	blood:	n/a
28	chr15:40861963-40862013	GM06990	blood:	n/a
29	chr15:40861963-40862013	GM19239	blood:	n/a
30	chr15:40861963-40862013	SK-N-MC	brain:	n/a
31	chr15:40861963-40862013	K562	blood:	n/a
32	chr15:40861963-40862013	Jurkat	blood:	n/a
33	chr15:40861963-40862013	GM12892	blood:	n/a
34	chr15:40861963-40862013	HPAEpiC	pulmonary alveolar:	n/a
35	chr15:40861963-40862013	PrEC	prostate:	n/a
36	chr15:40861963-40862013	BJ	skin:	n/a
37	chr15:40861963-40862013	Hepatocyte	liver:	n/a
38	chr15:40861963-40862013	BE2_C	brain:	n/a
39	chr15:40861963-40862013	NT2-D1	testis:	n/a
40	chr15:40861963-40862013	AG04450	lung:	fetal
41	chr15:40861963-40862013	PFSK-1	brain:	n/a
42	chr15:40861963-40862013	MCF-7	breast:	n/a
43	chr15:40861963-40862013	MCF10A-Er-Src	breast:	n/a
44	chr15:40861963-40862013	LNCaP	prostate:	n/a
45	chr15:40861963-40862013	NH-A	brain:	n/a
46	chr15:40861963-40862013	A549	lung:	n/a
47	chr15:40861963-40862013	NHDF-neo	bronchial:	n/a
48	chr15:40861963-40862013	HCPEpiC	choroid plexus:	n/a
49	chr15:40861963-40862013	Caco-2	colon:	n/a
50	chr15:40861963-40862013	HCM	heart:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40855657..40859262-chr15:40860971..40863634,5	MCF-7	breast:
2	chr15:40860821..40863087-chr15:40987318..40989233,3	K562	blood:

No data

Variant related genes	Relation type
C15orf57	TF binding region
C15orf57	CpG island
ENSG00000128891	Chromatin interaction
ENSG00000051180	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56195430	0.89[ASN][1000 genomes]
rs61668695	1.00[ASN][1000 genomes]
rs8042758	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40860600-40862200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:40860800-40862200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:40860800-40862200	Active TSS	Colonic Mucosa	Colon
4	chr15:40860800-40862200	Active TSS	Fetal Brain Female	brain
5	chr15:40860800-40862200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:40860800-40862400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr15:40860800-40862400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:40860800-40862600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:40860800-40863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:40861000-40862000	Active TSS	Primary T cells fromperipheralblood	blood
11	chr15:40861000-40862000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:40861000-40862000	Active TSS	Fetal Muscle Trunk	muscle
13	chr15:40861000-40862200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:40861000-40862200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr15:40861000-40862200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:40861000-40862200	Active TSS	Placenta	Placenta
17	chr15:40861000-40862200	Active TSS	Fetal Stomach	stomach
18	chr15:40861000-40862200	Active TSS	Stomach Smooth Muscle	stomach
19	chr15:40861000-40862400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:40861000-40862400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40861000-40862400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:40861000-40862400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:40861000-40862400	Active TSS	Brain Angular Gyrus	brain
24	chr15:40861000-40862400	Active TSS	Fetal Brain Male	brain
25	chr15:40861000-40862400	Active TSS	Fetal Intestine Small	intestine
26	chr15:40861000-40862400	Active TSS	Fetal Kidney	kidney
27	chr15:40861000-40862400	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:40861000-40862400	Active TSS	Right Ventricle	heart
29	chr15:40861000-40862400	Active TSS	A549	lung
30	chr15:40861000-40862400	Active TSS	HSMMtube	muscle
31	chr15:40861000-40862400	Active TSS	K562	blood
32	chr15:40861000-40862400	Active TSS	NH-A	brain
33	chr15:40861000-40862400	Active TSS	NHLF	lung
34	chr15:40861000-40862600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:40861000-40862600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:40861000-40862600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr15:40861000-40862600	Active TSS	Psoas Muscle	Psoas
38	chr15:40861000-40862600	Active TSS	NHDF-Ad	bronchial
39	chr15:40861000-40862800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr15:40861000-40862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40861000-40862800	Active TSS	Right Atrium	heart
42	chr15:40861000-40863000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:40861000-40863000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr15:40861000-40863200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:40861200-40862000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:40861200-40862000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr15:40861200-40862000	Active TSS	Brain Hippocampus Middle	brain
48	chr15:40861200-40862000	Active TSS	Fetal Muscle Leg	muscle
49	chr15:40861200-40862000	Active TSS	Pancreas	Pancrea
50	chr15:40861200-40862000	Active TSS	Skeletal Muscle Male	skeletal muscle

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