Variant report

Variant	rs587718818
Chromosome Location	chr15:83315021-83315022
allele	C/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	TAF1	chr15:83314974-83315244	K562	blood:	n/a	n/a
2	MAZ	chr15:83314805-83317083	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
3	SIN3AK20	chr15:83314962-83315296	K562	blood:	n/a	n/a
4	RCOR1	chr15:83314858-83315561	K562	blood:	n/a	n/a
5	POLR2A	chr15:83314860-83316964	K562	blood:	n/a	n/a
6	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
7	HEY1	chr15:83314783-83315918	K562	blood:	n/a	chr15:83315194-83315209
8	POLR2A	chr15:83314902-83316627	K562	blood:	n/a	n/a
9	MAX	chr15:83314980-83315236	K562	blood:	n/a	n/a
10	MYC	chr15:83314815-83316876	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
11	BHLHE40	chr15:83314933-83316809	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
12	MXI1	chr15:83314996-83315347	K562	blood:	n/a	chr15:83315134-83315149
13	JUND	chr15:83314976-83316804	K562	blood:	n/a	chr15:83316417-83316426 chr15:83315203-83315212 chr15:83316398-83316406
14	SIN3A	chr15:83314958-83315404	H1-hESC	embryonic stem cell:	n/a	n/a
15	UBTF	chr15:83314779-83316748	K562	blood:	n/a	n/a
16	CTCF	chr15:83315020-83315170	K562	blood:	n/a	n/a
17	E2F6	chr15:83314939-83317179	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
18	EGR1	chr15:83314934-83315551	K562	blood:	n/a	chr15:83315128-83315135 chr15:83315205-83315218
19	POLR2A	chr15:83314967-83315613	K562	blood:	n/a	n/a
20	POLR2A	chr15:83314922-83316843	K562	blood:	n/a	n/a
21	UBTF	chr15:83314909-83316747	K562	blood:	n/a	n/a
22	POLR2A	chr15:83314884-83315592	K562	blood:	n/a	n/a
23	HDAC2	chr15:83314894-83315310	K562	blood:	n/a	n/a
24	ZBTB7A	chr15:83314907-83316975	K562	blood:	n/a	n/a
25	E2F4	chr15:83314805-83316795	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
26	POLR2A	chr15:83314916-83315590	K562	blood:	n/a	n/a
27	SIN3AK20	chr15:83314989-83315270	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr15:83314867-83316920	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
29	MAX	chr15:83314958-83317626	H1-hESC	embryonic stem cell:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
30	CBX3	chr15:83314795-83316810	K562	blood:	n/a	n/a
31	POLR2A	chr15:83314899-83317040	K562	blood:	n/a	n/a
32	E2F6	chr15:83314918-83317699	H1-hESC	embryonic stem cell:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
33	TBL1XR1	chr15:83314941-83315419	K562	blood:	n/a	n/a
34	NR2F2	chr15:83314927-83315674	K562	blood:	n/a	n/a
35	MAX	chr15:83315008-83316823	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
36	TBP	chr15:83314797-83317060	K562	blood:	n/a	n/a
37	E2F6	chr15:83314893-83316922	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
38	HMGN3	chr15:83314985-83317065	K562	blood:	n/a	chr15:83316396-83316405
39	YY1	chr15:83314969-83315519	K562	blood:	n/a	chr15:83315205-83315216
40	MAX	chr15:83314596-83317120	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
41	EP300	chr15:83314930-83315225	K562	blood:	n/a	chr15:83315197-83315213
42	SIN3AK20	chr15:83314934-83315363	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83314985-83315035	U87	brain:	n/a
2	chr15:83314985-83315035	AG09309	skin:	n/a
3	chr15:83314985-83315035	HEEpiC	esophagus:	n/a
4	chr15:83314985-83315035	HUVEC	blood vessel:	n/a
5	chr15:83314985-83315035	HRCEpiC	kidney:	n/a
6	chr15:83314985-83315035	HL-60	blood:	n/a
7	chr15:83314985-83315035	T-47D	breast:	n/a
8	chr15:83314985-83315035	NB4	blood:	n/a
9	chr15:83314985-83315035	PrEC	prostate:	n/a
10	chr15:83314985-83315035	HIPEpiC	eye:	n/a
11	chr15:83314985-83315035	PFSK-1	brain:	n/a
12	chr15:83314985-83315035	HepG2	liver:	n/a
13	chr15:83314985-83315035	SKMC	muscle:	n/a
14	chr15:83314985-83315035	LNCaP	prostate:	n/a
15	chr15:83314985-83315035	NH-A	brain:	n/a
16	chr15:83314985-83315035	GM19239	blood:	n/a
17	chr15:83314985-83315035	ProgFib	skin:	n/a
18	chr15:83314985-83315035	NHBE	bronchial:	n/a
19	chr15:83314985-83315035	BE2_C	brain:	n/a
20	chr15:83314985-83315035	AG04450	lung:	fetal
21	chr15:83314985-83315035	AG09319	gingival:	n/a
22	chr15:83314985-83315035	HCPEpiC	choroid plexus:	n/a
23	chr15:83314985-83315035	SK-N-SH_RA	brain:	n/a
24	chr15:83314985-83315035	RPTEC	kidney:	n/a
25	chr15:83314985-83315035	NT2-D1	testis:	n/a
26	chr15:83314985-83315035	HRPEpiC	eye:	n/a
27	chr15:83314985-83315035	HMEC	breast:	n/a
28	chr15:83314985-83315035	HAEpiC	amniotic membrane:	n/a
29	chr15:83314985-83315035	MCF10A-Er-Src	breast:	n/a
30	chr15:83314985-83315035	A549	lung:	n/a
31	chr15:83314985-83315035	ovcar-3	ovarian:	n/a
32	chr15:83314985-83315035	SK-N-MC	brain:	n/a
33	chr15:83314985-83315035	HCF	heart:	n/a
34	chr15:83314985-83315035	Hela-S3	cervix:	n/a
35	chr15:83314985-83315035	ECC-1	luminal epithelium:	n/a
36	chr15:83314985-83315035	PANC-1	pancreas:	n/a
37	chr15:83314985-83315035	Jurkat	blood:	n/a
38	chr15:83314985-83315035	Hepatocyte	liver:	n/a
39	chr15:83314985-83315035	IMR90	lung:	fetal
40	chr15:83314985-83315035	BJ	skin:	n/a
41	chr15:83314985-83315035	AoSMC	blood vessel:	n/a
42	chr15:83314985-83315035	HCT-116	colon:	n/a
43	chr15:83314985-83315035	HEK293	kidney:	embryo
44	chr15:83314985-83315035	HNPCEpiC	eye:	n/a
45	chr15:83314985-83315035	AG10803	skin:	n/a
46	chr15:83314985-83315035	NHDF-neo	bronchial:	n/a
47	chr15:83314985-83315035	GM12891	blood:	n/a
48	chr15:83314985-83315035	HRE	kidney:	n/a
49	chr15:83314985-83315035	GM12878	blood:	n/a
50	chr15:83314985-83315035	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
2	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
3	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
4	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
5	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
6	chr15:83216717..83218665-chr15:83313410..83315739,2	K562	blood:

Variant related genes	Relation type
ENSG00000259462	TF binding region
ENSG00000259462	CpG island
ENSG00000260608	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3344877	chr15:83294946-83316565	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv33057	chr15:83314833-83317588	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83314000-83315400	Active TSS	K562	blood
2	chr15:83314800-83315200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
4	chr15:83314800-83315200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr15:83314800-83315200	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:83314800-83315400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:83314800-83315400	Active TSS	Brain Anterior Caudate	brain
9	chr15:83314800-83315400	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:83315000-83315200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:83315000-83315200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:83315000-83315200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:83315000-83315200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:83315000-83315200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
26	chr15:83315000-83315200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:83315000-83315200	Enhancers	Ovary	ovary
28	chr15:83315000-83315200	Bivalent Enhancer	Psoas Muscle	Psoas
29	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr15:83315000-83315400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:83315000-83315400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:83315000-83315400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:83315000-83315400	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr15:83315000-83315600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr15:83315000-83315600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:83315000-83315600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
42	chr15:83315000-83315600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr15:83315000-83315600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr15:83315000-83315600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:83315000-83315600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:83315000-83315600	Bivalent Enhancer	Esophagus	oesophagus
47	chr15:83315000-83315600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr15:83315000-83315600	Enhancers	Lung	lung
49	chr15:83315000-83315600	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr15:83315000-83315800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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