Variant report

Variant	rs4923887
Chromosome Location	chr15:41166528-41166529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

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	MAX	chr15:41165812-41166714	GM12878	blood:	n/a	chr15:41166095-41166104
3	ELK1	chr15:41165920-41166662	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:41165924-41166802	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr15:41166264-41166625	A549	lung:	n/a	n/a
6	ZBTB7A	chr15:41165652-41166679	ECC-1	luminal epithelium:	n/a	chr15:41165996-41166005
7	FOXA1	chr15:41166292-41166643	T-47D	breast:	n/a	n/a
8	MAX	chr15:41165877-41166745	SK-N-SH	brain:	n/a	chr15:41166095-41166104
9	POLR2A	chr15:41165610-41167061	MCF10A-Er-Src	breast:	n/a	n/a
10	UBTF	chr15:41165843-41166663	K562	blood:	n/a	n/a
11	POLR2A	chr15:41166146-41166712	GM12878	blood:	n/a	n/a
12	MAZ	chr15:41165603-41166690	Hela-S3	cervix:	n/a	chr15:41166095-41166104
13	HEY1	chr15:41166176-41166575	K562	blood:	n/a	n/a
14	TAF7	chr15:41166178-41166602	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr15:41166377-41166699	Hela-S3	cervix:	n/a	n/a
16	CHD1	chr15:41165781-41167048	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
17	POLR2A	chr15:41165672-41166705	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:41165698-41166720	GM12892	blood:	n/a	n/a
19	POU2F2	chr15:41165724-41166701	GM12878	blood:	n/a	chr15:41166058-41166070 chr15:41165943-41165955 chr15:41166061-41166073
20	ZKSCAN1	chr15:41165703-41166655	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:41165968-41166588	GM18951	blood:	n/a	n/a
22	JUND	chr15:41166364-41166593	K562	blood:	n/a	n/a
23	RCOR1	chr15:41165731-41166796	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:41165857-41166740	GM12892	blood:	n/a	n/a
25	CTCF	chr15:41165535-41166707	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
26	POLR2A	chr15:41165909-41166808	H1-neurons	neurons:	n/a	n/a
27	PAX5	chr15:41166257-41166597	GM12878	blood:	n/a	n/a
28	TBP	chr15:41166257-41166615	H1-hESC	embryonic stem cell:	n/a	n/a
29	HMGN3	chr15:41165747-41166645	K562	blood:	n/a	n/a
30	MYC	chr15:41165873-41166606	K562	blood:	n/a	chr15:41166095-41166104
31	BRCA1	chr15:41166431-41166796	Hela-S3	cervix:	n/a	n/a
32	EBF1	chr15:41165882-41166569	GM12878	blood:	n/a	chr15:41166026-41166035
33	POLR2A	chr15:41166089-41166590	HEK293	kidney:	n/a	n/a
34	FOXA2	chr15:41166229-41166651	A549	lung:	n/a	n/a
35	POLR2A	chr15:41165847-41166595	GM18505	blood:	n/a	n/a
36	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
37	POLR2A	chr15:41165776-41166753	K562	blood:	n/a	n/a
38	EP300	chr15:41165503-41166735	ECC-1	luminal epithelium:	n/a	chr15:41165943-41165959
39	POLR2A	chr15:41166146-41166653	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:41165771-41166641	GM12891	blood:	n/a	n/a
41	POU2F2	chr15:41166282-41166639	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:41165762-41166732	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr15:41166468-41166622	K562	blood:	n/a	n/a
44	TCF12	chr15:41165435-41166733	ECC-1	luminal epithelium:	n/a	n/a
45	TAF1	chr15:41166237-41166639	GM12878	blood:	n/a	n/a
46	E2F6	chr15:41166468-41166594	K562	blood:	n/a	n/a
47	POLR2A	chr15:41165964-41166597	GM19099	blood:	n/a	n/a
48	POLR2A	chr15:41166208-41166673	HCT-116	colon:	n/a	n/a
49	POLR2A	chr15:41165888-41166698	Raji	blood:	n/a	n/a
50	E2F6	chr15:41165835-41166616	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41166509-41166559	MCF10A-Er-Src	breast:	n/a
2	chr15:41166509-41166559	ovcar-3	ovarian:	n/a
3	chr15:41166509-41166559	HCT-116	colon:	n/a
4	chr15:41166509-41166559	AG10803	skin:	n/a
5	chr15:41166509-41166559	ProgFib	skin:	n/a
6	chr15:41166509-41166559	GM06990	blood:	n/a
7	chr15:41166509-41166559	AoSMC	blood vessel:	n/a
8	chr15:41166509-41166559	HepG2	liver:	n/a
9	chr15:41166509-41166559	NHDF-neo	bronchial:	n/a
10	chr15:41166509-41166559	NHBE	bronchial:	n/a
11	chr15:41166509-41166559	Hepatocyte	liver:	n/a
12	chr15:41166509-41166559	HRCEpiC	kidney:	n/a
13	chr15:41166509-41166559	SAEC	small airway:	n/a
14	chr15:41166509-41166559	GM12891	blood:	n/a
15	chr15:41166509-41166559	HIPEpiC	eye:	n/a
16	chr15:41166509-41166559	AG09319	gingival:	n/a
17	chr15:41166509-41166559	HRE	kidney:	n/a
18	chr15:41166509-41166559	ECC-1	luminal epithelium:	n/a
19	chr15:41166509-41166559	SKMC	muscle:	n/a
20	chr15:41166509-41166559	SK-N-SH	brain:	n/a
21	chr15:41166509-41166559	LNCaP	prostate:	n/a
22	chr15:41166509-41166559	SK-N-SH_RA	brain:	n/a
23	chr15:41166509-41166559	HEEpiC	esophagus:	n/a
24	chr15:41166509-41166559	HCF	heart:	n/a
25	chr15:41166509-41166559	GM19239	blood:	n/a
26	chr15:41166509-41166559	MCF-7	breast:	n/a
27	chr15:41166509-41166559	PrEC	prostate:	n/a
28	chr15:41166509-41166559	NH-A	brain:	n/a
29	chr15:41166509-41166559	U87	brain:	n/a
30	chr15:41166509-41166559	AG04450	lung:	fetal
31	chr15:41166509-41166559	HUVEC	blood vessel:	n/a
32	chr15:41166509-41166559	HCPEpiC	choroid plexus:	n/a
33	chr15:41166509-41166559	PANC-1	pancreas:	n/a
34	chr15:41166509-41166559	H1-hESC	embryonic stem cell:	embryo
35	chr15:41166509-41166559	GM12878	blood:	n/a
36	chr15:41166509-41166559	BE2_C	brain:	n/a
37	chr15:41166509-41166559	AG04449	skin:	fetal
38	chr15:41166509-41166559	NB4	blood:	n/a
39	chr15:41166509-41166559	HMEC	breast:	n/a
40	chr15:41166509-41166559	IMR90	lung:	fetal
41	chr15:41166509-41166559	Hela-S3	cervix:	n/a
42	chr15:41166509-41166559	GM12892	blood:	n/a
43	chr15:41166509-41166559	A549	lung:	n/a
44	chr15:41166509-41166559	HRPEpiC	eye:	n/a
45	chr15:41166509-41166559	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:41166509-41166559	K562	blood:	n/a
47	chr15:41166509-41166559	PFSK-1	brain:	n/a
48	chr15:41166509-41166559	RPTEC	kidney:	n/a
49	chr15:41166509-41166559	T-47D	breast:	n/a
50	chr15:41166509-41166559	BJ	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41166323..41166984-chr15:75743572..75744484,2	Hela-S3	cervix:
2	chr15:41134365..41142873-chr15:41160505..41167459,15	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	chr15:41165629..41167892-chr15:41184991..41187244,2	K562	blood:

No data

Variant related genes	Relation type
RHOV	TF binding region
ENSG00000264256	TF binding region
RHOV	CpG island
ENSG00000264256	CpG island
ENSG00000251161	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000177694	Chromatin interaction
ENSG00000005436	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000104129	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11070298	0.90[EUR][1000 genomes]
rs11070299	0.90[EUR][1000 genomes]
rs11070304	0.82[EUR][1000 genomes]
rs11856227	0.90[EUR][1000 genomes]
rs12101494	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12903603	0.85[EUR][1000 genomes]
rs12916961	0.81[EUR][1000 genomes]
rs16971157	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1814692	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279578	0.90[EUR][1000 genomes]
rs2412571	0.90[EUR][1000 genomes]
rs28444382	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2934172	0.87[ASN][1000 genomes]
rs4244581	0.84[EUR][1000 genomes]
rs4384588	0.90[EUR][1000 genomes]
rs4552004	0.87[ASN][1000 genomes]
rs4923885	0.90[EUR][1000 genomes]
rs4923886	0.90[EUR][1000 genomes]
rs4924509	0.84[EUR][1000 genomes]
rs601436	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs616606	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617377	0.84[EUR][1000 genomes]
rs618892	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs618916	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs625058	0.90[EUR][1000 genomes]
rs690507	0.90[EUR][1000 genomes]
rs7172280	0.87[ASN][1000 genomes]
rs8024861	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8024961	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8025867	0.87[ASN][1000 genomes]
rs8028660	0.90[EUR][1000 genomes]

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	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
2	chr15:41165200-41166800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:41165200-41166800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr15:41165400-41166600	Active TSS	Brain Angular Gyrus	brain
5	chr15:41165400-41166600	Active TSS	Brain Germinal Matrix	brain
6	chr15:41165400-41166800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:41165400-41166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:41165400-41166800	Active TSS	Brain Cingulate Gyrus	brain
10	chr15:41165400-41166800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr15:41165600-41166600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:41165600-41166600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:41165600-41166600	Active TSS	A549	lung
14	chr15:41165600-41166600	Bivalent/Poised TSS	HepG2	liver
15	chr15:41165600-41166800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:41165600-41166800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:41165600-41166800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr15:41165600-41166800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:41165600-41166800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr15:41165600-41166800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:41165600-41167000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:41165600-41167000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:41165800-41166600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr15:41165800-41166600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:41165800-41166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:41165800-41166600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:41165800-41166600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr15:41165800-41166600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:41165800-41166600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:41165800-41166600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:41165800-41166600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:41165800-41166600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:41165800-41166600	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr15:41165800-41166600	Flanking Active TSS	Right Ventricle	heart
35	chr15:41165800-41166600	Active TSS	Stomach Mucosa	stomach
36	chr15:41165800-41166600	Flanking Active TSS	HMEC	breast
37	chr15:41165800-41166800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr15:41165800-41166800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
39	chr15:41165800-41166800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr15:41165800-41166800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:41165800-41166800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:41165800-41166800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr15:41165800-41166800	Active TSS	Pancreas	Pancrea
44	chr15:41165800-41166800	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr15:41165800-41166800	Active TSS	HSMM	muscle
46	chr15:41165800-41166800	Flanking Active TSS	HUVEC	blood vessel
47	chr15:41165800-41166800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr15:41165800-41167000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr15:41165800-41167000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr15:41165800-41167000	Active TSS	Primary T cells from cord blood	blood

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