Variant report

Variant	rs4777539
Chromosome Location	chr15:73075156-73075157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:73075098-73075772	Hela-S3	cervix:	n/a	n/a
2	PML	chr15:73075103-73076973	GM12878	blood:	n/a	n/a
3	UBTF	chr15:73075119-73076818	K562	blood:	n/a	n/a
4	SPI1	chr15:73075154-73075601	GM12891	blood:	n/a	n/a
5	MAFK	chr15:73074933-73075560	K562	blood:	n/a	n/a
6	WRNIP1	chr15:73074942-73077820	GM12878	blood:	n/a	n/a
7	CUX1	chr15:73075062-73075260	K562	blood:	n/a	n/a
8	POLR2A	chr15:73075096-73077163	PBDE	blood:	n/a	n/a
9	MAZ	chr15:73075073-73076880	GM12878	blood:	n/a	n/a
10	ATF1	chr15:73074947-73075488	K562	blood:	n/a	n/a
11	POLR2A	chr15:73074961-73077275	GM12891	blood:	n/a	n/a
12	EP300	chr15:73075148-73076351	K562	blood:	n/a	n/a
13	POLR2A	chr15:73074950-73077135	GM12878	blood:	n/a	n/a
14	CEBPB	chr15:73074874-73076989	Hela-S3	cervix:	n/a	chr15:73075468-73075479
15	RCOR1	chr15:73075113-73076978	K562	blood:	n/a	n/a
16	MXI1	chr15:73074908-73077131	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:73075073-73077128	GM12878	blood:	n/a	n/a
18	MAX	chr15:73075152-73077006	K562	blood:	n/a	n/a
19	POLR2A	chr15:73075127-73076965	U87	brain:	n/a	n/a
20	REST	chr15:73075118-73076802	HL-60	blood:	n/a	n/a
21	MXI1	chr15:73074982-73076821	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:73073828-73077169	K562	blood:	n/a	n/a
23	POLR2A	chr15:73074956-73076954	K562	blood:	n/a	n/a
24	ARID3A	chr15:73075134-73075424	K562	blood:	n/a	n/a
25	POLR2A	chr15:73075015-73076942	HL-60	blood:	n/a	n/a
26	CTCF	chr15:73074786-73077513	A549	lung:	n/a	n/a
27	SIN3A	chr15:73075119-73076677	GM12878	blood:	n/a	n/a
28	JUND	chr15:73074910-73077035	K562	blood:	n/a	n/a
29	POLR2A	chr15:73075135-73077041	HL-60	blood:	n/a	n/a
30	POLR2A	chr15:73074871-73076987	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:73074870-73077285	MCF10A-Er-Src	breast:	n/a	n/a
32	HCFC1	chr15:73074341-73077460	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr15:73074795-73076818	Hela-S3	cervix:	n/a	n/a
34	RUNX3	chr15:73075146-73076822	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:73075051-73077199	GM12892	blood:	n/a	n/a
36	POLR2A	chr15:73075097-73077260	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:73074903-73077032	HepG2	liver:	n/a	n/a
38	RELA	chr15:73074903-73077092	GM15510	blood:	n/a	n/a
39	BHLHE40	chr15:73075148-73076947	K562	blood:	n/a	n/a
40	MXI1	chr15:73075118-73077511	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:73074973-73077067	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr15:73075069-73077117	GM12878	blood:	n/a	n/a
43	SPI1	chr15:73075156-73075809	HL-60	blood:	n/a	n/a
44	ESRRA	chr15:73074606-73078362	GM12878	blood:	n/a	n/a
45	MAFF	chr15:73075052-73075346	K562	blood:	n/a	n/a
46	BACH1	chr15:73074950-73075472	K562	blood:	n/a	n/a
47	ATF2	chr15:73074924-73075752	GM12878	blood:	n/a	n/a
48	RAD21	chr15:73074914-73077453	SK-N-SH	brain:	n/a	n/a
49	GATA1	chr15:73074873-73076861	PBDE	blood:	n/a	n/a
50	TBP	chr15:73075040-73076856	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72978938..72981317-chr15:73074560..73077463,3	K562	blood:
2	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:
3	chr15:73023517..73026830-chr15:73073635..73076108,3	MCF-7	breast:
4	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:
5	chr15:72977264..72978956-chr15:73075083..73076901,2	MCF-7	breast:
6	chr15:72978938..72981317-chr15:73074560..73077463,2	K562	blood:
7	chr15:72976932..72978751-chr15:73073825..73076141,2	MCF-7	breast:
8	chr15:73073926..73075951-chr2:64751420..64752931,2	MCF-7	breast:
9	chr15:73014099..73017746-chr15:73074579..73076877,3	MCF-7	breast:
10	chr15:73023950..73025528-chr15:73074914..73077829,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73074465-73076667	ENSG00000247829

No data

Variant related genes	Relation type
ADPGK-AS1	TF binding region
ENSG00000159322	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000119844	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11634630	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:73073200-73075200	Enhancers	Spleen	Spleen
4	chr15:73073800-73076800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:73074000-73075200	Enhancers	Small Intestine	intestine
6	chr15:73074000-73075200	Enhancers	Stomach Mucosa	stomach
7	chr15:73074000-73075400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr15:73074000-73075400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr15:73074000-73075400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr15:73074000-73075600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr15:73074200-73075200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:73074200-73075200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:73074200-73075200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr15:73074200-73075400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr15:73074200-73075400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr15:73074200-73075400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:73074200-73075600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:73074200-73075600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:73074400-73075200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr15:73074400-73075200	Flanking Active TSS	Hela-S3	cervix
21	chr15:73074400-73075200	Flanking Active TSS	Osteobl	bone
22	chr15:73074400-73075400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr15:73074400-73075400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:73074400-73075400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr15:73074400-73075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:73074400-73075400	Flanking Active TSS	Liver	Liver
27	chr15:73074400-73076800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:73074400-73076800	Active TSS	NHLF	lung
29	chr15:73074600-73075200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:73074600-73075200	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr15:73074600-73075200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr15:73074600-73075200	Weak transcription	Lung	lung
33	chr15:73074600-73075200	Flanking Active TSS	NHEK	skin
34	chr15:73074600-73075400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr15:73074600-73075400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr15:73074600-73075400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr15:73074600-73075600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:73074600-73076400	Active TSS	GM12878-XiMat	blood
39	chr15:73074600-73076800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:73074600-73076800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:73074600-73076800	Active TSS	Rectal Smooth Muscle	rectum
42	chr15:73074600-73076800	Active TSS	A549	lung
43	chr15:73074600-73077000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:73074600-73077000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:73074600-73077000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr15:73074600-73077000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr15:73074600-73077000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:73074600-73077200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:73074800-73075200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:73074800-73075200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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