Variant report

Variant	rs201868870
Chromosome Location	chr15:41165948-41165949
allele	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	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	CTCF	chr15:41165900-41166050	HPF	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
4	MAX	chr15:41165812-41166714	GM12878	blood:	n/a	chr15:41166095-41166104
5	ELK1	chr15:41165920-41166662	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr15:41165880-41166030	AG04449	skin:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
7	HDAC2	chr15:41165786-41166161	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:41165924-41166802	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr15:41165900-41166050	Caco-2	colon:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
10	ZBTB7A	chr15:41165652-41166679	ECC-1	luminal epithelium:	n/a	chr15:41165996-41166005
11	CTCF	chr15:41165824-41166157	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
12	SIN3AK20	chr15:41165901-41166498	PANC-1	pancreas:	n/a	n/a
13	MAX	chr15:41165877-41166745	SK-N-SH	brain:	n/a	chr15:41166095-41166104
14	CTCF	chr15:41165831-41166185	IMR90	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
15	CTCF	chr15:41165920-41166070	GM12868	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
16	CTCF	chr15:41165754-41166178	H1-hESC	embryonic stem cell:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
17	POLR2A	chr15:41165610-41167061	MCF10A-Er-Src	breast:	n/a	n/a
18	UBTF	chr15:41165843-41166663	K562	blood:	n/a	n/a
19	CTCF	chr15:41165920-41166070	HRPEpiC	eye:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
20	MAZ	chr15:41165603-41166690	Hela-S3	cervix:	n/a	chr15:41166095-41166104
21	CREB1	chr15:41165737-41166441	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr15:41165781-41167048	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
23	WRNIP1	chr15:41165713-41166160	GM12878	blood:	n/a	n/a
24	CTCF	chr15:41165805-41166181	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
25	POLR2A	chr15:41165672-41166705	MCF-7	breast:	n/a	n/a
26	CTCF	chr15:41165826-41166129	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
27	POLR2A	chr15:41165698-41166720	GM12892	blood:	n/a	n/a
28	POU2F2	chr15:41165724-41166701	GM12878	blood:	n/a	chr15:41166058-41166070 chr15:41165943-41165955 chr15:41166061-41166073
29	ZKSCAN1	chr15:41165703-41166655	Hela-S3	cervix:	n/a	n/a
30	YY1	chr15:41165832-41166146	GM12891	blood:	n/a	n/a
31	CTCF	chr15:41165940-41166090	BE2_C	brain:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
32	POLR2A	chr15:41165812-41166230	K562	blood:	n/a	n/a
33	YY1	chr15:41165177-41166262	GM12878	blood:	n/a	n/a
34	RAD21	chr15:41165693-41166197	H1-hESC	embryonic stem cell:	n/a	chr15:41165993-41166012
35	RCOR1	chr15:41165731-41166796	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr15:41165860-41166010	Caco-2	colon:	n/a	chr15:41165997-41166010
37	POLR2A	chr15:41165857-41166740	GM12892	blood:	n/a	n/a
38	POLR2A	chr15:41165863-41166500	A549	lung:	n/a	n/a
39	CTCF	chr15:41165535-41166707	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
40	POLR2A	chr15:41165909-41166808	H1-neurons	neurons:	n/a	n/a
41	CTCF	chr15:41165925-41166024	HUVEC	blood vessel:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
42	CTCF	chr15:41165920-41166070	GM12871	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
43	CTCF	chr15:41165822-41166150	MCF-7	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
44	CTCF	chr15:41165880-41166030	HFF-Myc	foreskin:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
45	CTCF	chr15:41165940-41166090	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
46	HMGN3	chr15:41165747-41166645	K562	blood:	n/a	n/a
47	MYC	chr15:41165873-41166606	K562	blood:	n/a	chr15:41166095-41166104
48	NRF1	chr15:41165744-41165964	GM12878	blood:	n/a	n/a
49	EBF1	chr15:41165882-41166569	GM12878	blood:	n/a	chr15:41166026-41166035
50	CTCF	chr15:41165860-41166010	HFF-Myc	foreskin:	n/a	chr15:41165997-41166010

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	chr15:41165944..41166690-chr2:73298549..73299123,2	Hela-S3	cervix:
7	chr15:41147225..41150329-chr15:41164541..41167398,4	K562	blood:
8	chr15:40856363..40858923-chr15:41165345..41167356,2	K562	blood:
9	chr15:41165742..41167870-chr15:41221501..41224188,2	MCF-7	breast:
10	chr15:41165682..41166536-chr17:8076678..8077198,2	Hela-S3	cervix:
11	chr15:41165791..41166673-chr2:75937665..75938540,2	Hela-S3	cervix:
12	chr15:41164378..41166011-chr15:41221238..41223138,2	MCF-7	breast:
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:
18	chr15:41161907..41163827-chr15:41163924..41166003,2	K562	blood:

Variant related genes	Relation type
ENSG00000264256	TF binding region
ENSG00000104142	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000005436	Chromatin interaction
ENSG00000166145	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41163600-41166000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:41163800-41166200	Enhancers	Fetal Brain Male	brain
3	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
4	chr15:41164400-41166000	Enhancers	Gastric	stomach
5	chr15:41165000-41166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:41165000-41166000	Flanking Active TSS	NHEK	skin
7	chr15:41165200-41166000	Bivalent Enhancer	Fetal Lung	lung
8	chr15:41165200-41166800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:41165200-41166800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr15:41165400-41166000	Enhancers	Lung	lung
11	chr15:41165400-41166000	Flanking Active TSS	Hela-S3	cervix
12	chr15:41165400-41166400	Active TSS	Brain Anterior Caudate	brain
13	chr15:41165400-41166600	Active TSS	Brain Angular Gyrus	brain
14	chr15:41165400-41166600	Active TSS	Brain Germinal Matrix	brain
15	chr15:41165400-41166800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:41165400-41166800	Active TSS	Brain Cingulate Gyrus	brain
19	chr15:41165400-41166800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:41165600-41166000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr15:41165600-41166000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr15:41165600-41166000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:41165600-41166000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:41165600-41166000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr15:41165600-41166000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr15:41165600-41166000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:41165600-41166000	Enhancers	Spleen	Spleen
28	chr15:41165600-41166000	Flanking Active TSS	K562	blood
29	chr15:41165600-41166200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:41165600-41166200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:41165600-41166200	Flanking Active TSS	Colonic Mucosa	Colon
32	chr15:41165600-41166600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:41165600-41166600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:41165600-41166600	Active TSS	A549	lung
35	chr15:41165600-41166600	Bivalent/Poised TSS	HepG2	liver
36	chr15:41165600-41166800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr15:41165600-41166800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr15:41165600-41166800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:41165600-41166800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:41165600-41166800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr15:41165600-41166800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr15:41165600-41167000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:41165600-41167000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:41165800-41166000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:41165800-41166000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:41165800-41166000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr15:41165800-41166000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr15:41165800-41166000	Active TSS	Primary hematopoietic stem cells	blood
49	chr15:41165800-41166000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:41165800-41166000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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