Variant report

Variant	rs556817611
Chromosome Location	chr15:41165797-41165798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr15:41165786-41166161	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr15:41165652-41166679	ECC-1	luminal epithelium:	n/a	chr15:41165996-41166005
3	CTCF	chr15:41165754-41166178	H1-hESC	embryonic stem cell:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
4	POLR2A	chr15:41165610-41167061	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr15:41165603-41166690	Hela-S3	cervix:	n/a	chr15:41166095-41166104
6	CREB1	chr15:41165737-41166441	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr15:41165781-41167048	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
8	WRNIP1	chr15:41165713-41166160	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:41165672-41166705	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:41165698-41166720	GM12892	blood:	n/a	n/a
11	POU2F2	chr15:41165724-41166701	GM12878	blood:	n/a	chr15:41166058-41166070 chr15:41165943-41165955 chr15:41166061-41166073
12	ZKSCAN1	chr15:41165703-41166655	Hela-S3	cervix:	n/a	n/a
13	YY1	chr15:41165177-41166262	GM12878	blood:	n/a	n/a
14	RAD21	chr15:41165693-41166197	H1-hESC	embryonic stem cell:	n/a	chr15:41165993-41166012
15	RCOR1	chr15:41165731-41166796	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr15:41165535-41166707	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
17	HMGN3	chr15:41165747-41166645	K562	blood:	n/a	n/a
18	NRF1	chr15:41165744-41165964	GM12878	blood:	n/a	n/a
19	BRCA1	chr15:41165758-41166043	Hela-S3	cervix:	n/a	n/a
20	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
21	TAF1	chr15:41165723-41166227	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:41165776-41166753	K562	blood:	n/a	n/a
23	SIN3A	chr15:41165772-41166188	H1-hESC	embryonic stem cell:	n/a	chr15:41166060-41166073 chr15:41166041-41166052
24	EP300	chr15:41165503-41166735	ECC-1	luminal epithelium:	n/a	chr15:41165943-41165959
25	POLR2A	chr15:41165771-41166641	GM12891	blood:	n/a	n/a
26	POLR2A	chr15:41165762-41166732	Hela-S3	cervix:	n/a	n/a
27	ZEB1	chr15:41165682-41166359	GM12878	blood:	n/a	chr15:41165875-41165887
28	TCF12	chr15:41165435-41166733	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr15:41165711-41166090	H1-hESC	embryonic stem cell:	n/a	chr15:41165993-41166012
30	GABPA	chr15:41165708-41166303	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr15:41165784-41166726	Hela-S3	cervix:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
32	RFX5	chr15:41165765-41166765	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr15:41165710-41166612	GM12878	blood:	n/a	n/a
34	YY1	chr15:41165740-41166197	HepG2	liver:	n/a	n/a
35	SMARCB1	chr15:41165318-41166665	Hela-S3	cervix:	n/a	n/a
36	MAX	chr15:41165723-41166699	K562	blood:	n/a	chr15:41166095-41166104
37	NFIC	chr15:41165783-41166721	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr15:41162820-41166815	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr15:41165774-41166212	HepG2	liver:	n/a	chr15:41165993-41166012
40	CTCF	chr15:41165674-41166289	MCF-7	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
41	POLR2A	chr15:41165616-41166726	MCF-7	breast:	n/a	n/a
42	RAD21	chr15:41165701-41166202	MCF-7	breast:	n/a	chr15:41165993-41166012
43	POLR2A	chr15:41165636-41166721	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:41163392-41166601	GM12878	blood:	n/a	n/a
45	TBP	chr15:41165772-41166005	H1-hESC	embryonic stem cell:	n/a	n/a
46	RFX5	chr15:41165665-41166023	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr15:41165740-41165890	GM12865	blood:	n/a	n/a
48	RUNX3	chr15:41165788-41166762	GM12878	blood:	n/a	n/a
49	MYC	chr15:41165724-41166683	K562	blood:	n/a	chr15:41166095-41166104
50	POLR2A	chr15:41165686-41166683	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41165762-41165812	HUVEC	blood vessel:	n/a
2	chr15:41165762-41165812	NH-A	brain:	n/a
3	chr15:41165762-41165812	NHBE	bronchial:	n/a
4	chr15:41165762-41165812	PANC-1	pancreas:	n/a
5	chr15:41165762-41165812	HepG2	liver:	n/a
6	chr15:41165762-41165812	ECC-1	luminal epithelium:	n/a
7	chr15:41165762-41165812	HL-60	blood:	n/a
8	chr15:41165762-41165812	U87	brain:	n/a
9	chr15:41165762-41165812	GM19239	blood:	n/a
10	chr15:41165762-41165812	RPTEC	kidney:	n/a
11	chr15:41165762-41165812	MCF10A-Er-Src	breast:	n/a
12	chr15:41165762-41165812	H1-hESC	embryonic stem cell:	embryo
13	chr15:41165762-41165812	PrEC	prostate:	n/a
14	chr15:41165762-41165812	AG04449	skin:	fetal
15	chr15:41165762-41165812	AG09309	skin:	n/a
16	chr15:41165762-41165812	AG10803	skin:	n/a
17	chr15:41165762-41165812	BE2_C	brain:	n/a
18	chr15:41165762-41165812	Hela-S3	cervix:	n/a
19	chr15:41165762-41165812	MCF-7	breast:	n/a
20	chr15:41165762-41165812	SK-N-SH_RA	brain:	n/a
21	chr15:41165762-41165812	GM06990	blood:	n/a
22	chr15:41165762-41165812	NHDF-neo	bronchial:	n/a
23	chr15:41165762-41165812	SK-N-MC	brain:	n/a
24	chr15:41165762-41165812	ProgFib	skin:	n/a
25	chr15:41165762-41165812	T-47D	breast:	n/a
26	chr15:41165762-41165812	HNPCEpiC	eye:	n/a
27	chr15:41165762-41165812	IMR90	lung:	fetal
28	chr15:41165762-41165812	GM12878	blood:	n/a
29	chr15:41165762-41165812	K562	blood:	n/a
30	chr15:41165762-41165812	AG04450	lung:	fetal
31	chr15:41165762-41165812	GM12891	blood:	n/a
32	chr15:41165762-41165812	HAEpiC	amniotic membrane:	n/a
33	chr15:41165762-41165812	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:41165762-41165812	LNCaP	prostate:	n/a
35	chr15:41165762-41165812	HCT-116	colon:	n/a
36	chr15:41165762-41165812	ovcar-3	ovarian:	n/a
37	chr15:41165762-41165812	SKMC	muscle:	n/a
38	chr15:41165762-41165812	NB4	blood:	n/a
39	chr15:41165762-41165812	PFSK-1	brain:	n/a
40	chr15:41165762-41165812	CMK	blood:	n/a
41	chr15:41165762-41165812	A549	lung:	n/a
42	chr15:41165762-41165812	HRPEpiC	eye:	n/a
43	chr15:41165762-41165812	Jurkat	blood:	n/a
44	chr15:41165762-41165812	AoSMC	blood vessel:	n/a
45	chr15:41165762-41165812	HRCEpiC	kidney:	n/a
46	chr15:41165762-41165812	GM12892	blood:	n/a
47	chr15:41165762-41165812	HIPEpiC	eye:	n/a
48	chr15:41165762-41165812	Caco-2	colon:	n/a
49	chr15:41165762-41165812	HCPEpiC	choroid plexus:	n/a
50	chr15:41165762-41165812	SK-N-SH	brain:	n/a

(count:19 , 50 per page) page: 1

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	chr15:41165369..41165893-chr15:41184005..41184631,2	MCF-7	breast:
7	chr15:41164000..41165836-chr15:41190857..41193283,2	K562	blood:
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	chr15:41164378..41166011-chr15:41221238..41223138,2	MCF-7	breast:
14	chr15:41066752..41068835-chr15:41164487..41166836,2	K562	blood:
15	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
16	chr15:41163900..41166288-chr15:41184445..41186416,4	MCF-7	breast:
17	chr15:41104808..41107536-chr15:41164582..41166423,2	MCF-7	breast:
18	chr15:41165629..41167892-chr15:41184991..41187244,2	K562	blood:
19	chr15:41161907..41163827-chr15:41163924..41166003,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264256	TF binding region
ENSG00000264256	CpG island
ENSG00000128891	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000005436	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
2	chr15:41163000-41165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:41163600-41165800	Flanking Active TSS	GM12878-XiMat	blood
4	chr15:41163600-41166000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:41163800-41165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:41163800-41165800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:41163800-41165800	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:41163800-41165800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr15:41163800-41165800	Enhancers	HMEC	breast
10	chr15:41163800-41166200	Enhancers	Fetal Brain Male	brain
11	chr15:41164200-41165800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
13	chr15:41164400-41166000	Enhancers	Gastric	stomach
14	chr15:41164800-41165800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:41165000-41165800	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr15:41165000-41166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:41165000-41166000	Flanking Active TSS	NHEK	skin
18	chr15:41165200-41165800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:41165200-41165800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:41165200-41165800	Flanking Active TSS	Fetal Brain Female	brain
21	chr15:41165200-41165800	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr15:41165200-41166000	Bivalent Enhancer	Fetal Lung	lung
23	chr15:41165200-41166800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41165200-41166800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr15:41165400-41165800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:41165400-41165800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr15:41165400-41165800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr15:41165400-41165800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:41165400-41165800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:41165400-41165800	Enhancers	Fetal Heart	heart
31	chr15:41165400-41165800	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr15:41165400-41165800	Flanking Active TSS	Pancreas	Pancrea
33	chr15:41165400-41165800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr15:41165400-41165800	Bivalent Enhancer	Small Intestine	intestine
35	chr15:41165400-41166000	Enhancers	Lung	lung
36	chr15:41165400-41166000	Flanking Active TSS	Hela-S3	cervix
37	chr15:41165400-41166400	Active TSS	Brain Anterior Caudate	brain
38	chr15:41165400-41166600	Active TSS	Brain Angular Gyrus	brain
39	chr15:41165400-41166600	Active TSS	Brain Germinal Matrix	brain
40	chr15:41165400-41166800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:41165400-41166800	Active TSS	Brain Cingulate Gyrus	brain
44	chr15:41165400-41166800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:41165600-41165800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr15:41165600-41165800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr15:41165600-41165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:41165600-41165800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
49	chr15:41165600-41165800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:41165600-41165800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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