Variant report

Variant	rs531548926
Chromosome Location	chr15:41166073-41166074
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	RCOR1	chr15:41165933-41166616	GM12878	blood:	n/a	n/a
2	CTCF	chr15:41165879-41166104	Hela-S3	cervix:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
3	MAX	chr15:41165812-41166714	GM12878	blood:	n/a	chr15:41166095-41166104
4	CTCF	chr15:41165960-41166110	GM12864	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
5	ELK1	chr15:41165920-41166662	Hela-S3	cervix:	n/a	n/a
6	HDAC2	chr15:41165786-41166161	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:41165924-41166802	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB7A	chr15:41165652-41166679	ECC-1	luminal epithelium:	n/a	chr15:41165996-41166005
9	CTCF	chr15:41165824-41166157	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
10	SIN3AK20	chr15:41165901-41166498	PANC-1	pancreas:	n/a	n/a
11	MAX	chr15:41165877-41166745	SK-N-SH	brain:	n/a	chr15:41166095-41166104
12	CTCF	chr15:41165831-41166185	IMR90	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
13	CTCF	chr15:41165754-41166178	H1-hESC	embryonic stem cell:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
14	POLR2A	chr15:41165610-41167061	MCF10A-Er-Src	breast:	n/a	n/a
15	UBTF	chr15:41165843-41166663	K562	blood:	n/a	n/a
16	MAZ	chr15:41165603-41166690	Hela-S3	cervix:	n/a	chr15:41166095-41166104
17	CREB1	chr15:41165737-41166441	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr15:41165781-41167048	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
19	WRNIP1	chr15:41165713-41166160	GM12878	blood:	n/a	n/a
20	CTCF	chr15:41165805-41166181	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
21	POLR2A	chr15:41165672-41166705	MCF-7	breast:	n/a	n/a
22	CTCF	chr15:41165826-41166129	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
23	POLR2A	chr15:41165698-41166720	GM12892	blood:	n/a	n/a
24	POU2F2	chr15:41165724-41166701	GM12878	blood:	n/a	chr15:41166058-41166070 chr15:41165943-41165955 chr15:41166061-41166073
25	ZKSCAN1	chr15:41165703-41166655	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:41165968-41166588	GM18951	blood:	n/a	n/a
27	YY1	chr15:41165832-41166146	GM12891	blood:	n/a	n/a
28	CTCF	chr15:41165940-41166090	BE2_C	brain:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
29	POLR2A	chr15:41165812-41166230	K562	blood:	n/a	n/a
30	YY1	chr15:41165177-41166262	GM12878	blood:	n/a	n/a
31	RAD21	chr15:41165693-41166197	H1-hESC	embryonic stem cell:	n/a	chr15:41165993-41166012
32	RCOR1	chr15:41165731-41166796	Hela-S3	cervix:	n/a	n/a
33	MYC	chr15:41166059-41166148	HepG2	liver:	n/a	chr15:41166095-41166104
34	POLR2A	chr15:41165857-41166740	GM12892	blood:	n/a	n/a
35	POLR2A	chr15:41165863-41166500	A549	lung:	n/a	n/a
36	CTCF	chr15:41165535-41166707	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
37	POLR2A	chr15:41165909-41166808	H1-neurons	neurons:	n/a	n/a
38	CTCF	chr15:41165822-41166150	MCF-7	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
39	CTCF	chr15:41165940-41166090	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
40	HMGN3	chr15:41165747-41166645	K562	blood:	n/a	n/a
41	MYC	chr15:41165873-41166606	K562	blood:	n/a	chr15:41166095-41166104
42	EBF1	chr15:41165882-41166569	GM12878	blood:	n/a	chr15:41166026-41166035
43	CTCF	chr15:41165932-41166079	HepG2	liver:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
44	CTCF	chr15:41165853-41166145	GM19240	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
45	CTCF	chr15:41165822-41166112	T-47D	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
46	POLR2A	chr15:41165847-41166595	GM18505	blood:	n/a	n/a
47	ZNF263	chr15:41165772-41166767	HEK293-T-REx	kidney:	n/a	chr15:41166571-41166580 chr15:41166592-41166613 chr15:41166021-41166030 chr15:41166588-41166597 chr15:41166560-41166581
48	TAF1	chr15:41165723-41166227	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:41165776-41166753	K562	blood:	n/a	n/a
50	SIN3A	chr15:41165772-41166188	H1-hESC	embryonic stem cell:	n/a	chr15:41166060-41166073 chr15:41166041-41166052

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41166042-41166092	AG09319	gingival:	n/a
2	chr15:41166042-41166092	MCF10A-Er-Src	breast:	n/a
3	chr15:41166042-41166092	HRCEpiC	kidney:	n/a
4	chr15:41166042-41166092	AG09309	skin:	n/a
5	chr15:41166042-41166092	HAEpiC	amniotic membrane:	n/a
6	chr15:41166042-41166092	GM19239	blood:	n/a
7	chr15:41166042-41166092	SKMC	muscle:	n/a
8	chr15:41166042-41166092	HUVEC	blood vessel:	n/a
9	chr15:41166042-41166092	AG04449	skin:	fetal
10	chr15:41166042-41166092	HRE	kidney:	n/a
11	chr15:41166042-41166092	HL-60	blood:	n/a
12	chr15:41166042-41166092	SK-N-SH	brain:	n/a
13	chr15:41166042-41166092	NB4	blood:	n/a
14	chr15:41166042-41166092	T-47D	breast:	n/a
15	chr15:41166042-41166092	NH-A	brain:	n/a
16	chr15:41166042-41166092	NHBE	bronchial:	n/a
17	chr15:41166042-41166092	HNPCEpiC	eye:	n/a
18	chr15:41166042-41166092	ECC-1	luminal epithelium:	n/a
19	chr15:41166042-41166092	SK-N-MC	brain:	n/a
20	chr15:41166042-41166092	HCT-116	colon:	n/a
21	chr15:41166042-41166092	Hela-S3	cervix:	n/a
22	chr15:41166042-41166092	PANC-1	pancreas:	n/a
23	chr15:41166042-41166092	PFSK-1	brain:	n/a
24	chr15:41166042-41166092	HCF	heart:	n/a
25	chr15:41166042-41166092	A549	lung:	n/a
26	chr15:41166042-41166092	SK-N-SH_RA	brain:	n/a
27	chr15:41166042-41166092	HIPEpiC	eye:	n/a
28	chr15:41166042-41166092	GM06990	blood:	n/a
29	chr15:41166042-41166092	Hepatocyte	liver:	n/a
30	chr15:41166042-41166092	HepG2	liver:	n/a
31	chr15:41166042-41166092	AoSMC	blood vessel:	n/a
32	chr15:41166042-41166092	RPTEC	kidney:	n/a
33	chr15:41166042-41166092	GM12878	blood:	n/a
34	chr15:41166042-41166092	K562	blood:	n/a
35	chr15:41166042-41166092	Jurkat	blood:	n/a
36	chr15:41166042-41166092	ovcar-3	ovarian:	n/a
37	chr15:41166042-41166092	AG04450	lung:	fetal
38	chr15:41166042-41166092	Caco-2	colon:	n/a
39	chr15:41166042-41166092	AG10803	skin:	n/a
40	chr15:41166042-41166092	IMR90	lung:	fetal
41	chr15:41166042-41166092	NHDF-neo	bronchial:	n/a
42	chr15:41166042-41166092	ProgFib	skin:	n/a
43	chr15:41166042-41166092	HRPEpiC	eye:	n/a
44	chr15:41166042-41166092	NT2-D1	testis:	n/a
45	chr15:41166042-41166092	HCPEpiC	choroid plexus:	n/a
46	chr15:41166042-41166092	H1-hESC	embryonic stem cell:	embryo
47	chr15:41166042-41166092	U87	brain:	n/a
48	chr15:41166042-41166092	CMK	blood:	n/a
49	chr15:41166042-41166092	MCF-7	breast:	n/a
50	chr15:41166042-41166092	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41134365..41142873-chr15:41160505..41167459,15	MCF-7	breast:
2	chr15:41150681..41151918-chr15:41165518..41166393,6	MCF-7	breast:
3	chr15:41165791..41166734-chr3:174158093..174159082,2	Hela-S3	cervix:
4	chr15:41164626..41166627-chr15:41240824..41242386,2	MCF-7	breast:
5	chr15:41135079..41139908-chr15:41161283..41167324,7	MCF-7	breast:
6	chr15:41165970..41166558-chr7:7679740..7680262,2	Hela-S3	cervix:
7	chr15:41165944..41166690-chr2:73298549..73299123,2	Hela-S3	cervix:
8	chr15:41147225..41150329-chr15:41164541..41167398,4	K562	blood:
9	chr15:40856363..40858923-chr15:41165345..41167356,2	K562	blood:
10	chr15:41165742..41167870-chr15:41221501..41224188,2	MCF-7	breast:
11	chr15:41165682..41166536-chr17:8076678..8077198,2	Hela-S3	cervix:
12	chr15:41165791..41166673-chr2:75937665..75938540,2	Hela-S3	cervix:
13	chr15:41066752..41068835-chr15:41164487..41166836,2	K562	blood:
14	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
15	chr15:41163900..41166288-chr15:41184445..41186416,4	MCF-7	breast:
16	chr15:41104808..41107536-chr15:41164582..41166423,2	MCF-7	breast:
17	chr15:41165629..41167892-chr15:41184991..41187244,2	K562	blood:

Variant related genes	Relation type
ENSG00000264256	TF binding region
ENSG00000264256	CpG island
ENSG00000166145	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000005436	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000104129	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	esv3343760	chr15:41165085-41167633	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41163800-41166200	Enhancers	Fetal Brain Male	brain
2	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
3	chr15:41165200-41166800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:41165200-41166800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr15:41165400-41166400	Active TSS	Brain Anterior Caudate	brain
6	chr15:41165400-41166600	Active TSS	Brain Angular Gyrus	brain
7	chr15:41165400-41166600	Active TSS	Brain Germinal Matrix	brain
8	chr15:41165400-41166800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:41165400-41166800	Active TSS	Brain Cingulate Gyrus	brain
12	chr15:41165400-41166800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:41165600-41166200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:41165600-41166200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:41165600-41166200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr15:41165600-41166600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:41165600-41166600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:41165600-41166600	Active TSS	A549	lung
19	chr15:41165600-41166600	Bivalent/Poised TSS	HepG2	liver
20	chr15:41165600-41166800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr15:41165600-41166800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr15:41165600-41166800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr15:41165600-41166800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:41165600-41166800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
25	chr15:41165600-41166800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:41165600-41167000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:41165600-41167000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:41165800-41166200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:41165800-41166200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:41165800-41166200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr15:41165800-41166200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr15:41165800-41166200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:41165800-41166200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr15:41165800-41166200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
35	chr15:41165800-41166200	Flanking Active TSS	Left Ventricle	heart
36	chr15:41165800-41166200	Flanking Active TSS	Ovary	ovary
37	chr15:41165800-41166200	Flanking Active TSS	Psoas Muscle	Psoas
38	chr15:41165800-41166200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr15:41165800-41166200	Flanking Active TSS	Thymus	Thymus
40	chr15:41165800-41166400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:41165800-41166400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:41165800-41166400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr15:41165800-41166400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr15:41165800-41166400	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr15:41165800-41166400	Active TSS	GM12878-XiMat	blood
46	chr15:41165800-41166400	Bivalent/Poised TSS	Osteobl	bone
47	chr15:41165800-41166600	Active TSS	H1 Cell Line	embryonic stem cell
48	chr15:41165800-41166600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:41165800-41166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:41165800-41166600	Active TSS	HUES48 Cell Line	embryonic stem cell

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