Variant report

Variant	rs2036530
Chromosome Location	chr15:78726587-78726588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:78726503-78726839	GM12878	blood:	n/a	n/a
2	SPI1	chr15:78726389-78726788	HL-60	blood:	n/a	n/a
3	TEAD4	chr15:78726325-78726747	K562	blood:	n/a	n/a
4	BHLHE40	chr15:78726523-78726801	K562	blood:	n/a	n/a
5	BHLHE40	chr15:78726572-78726808	HepG2	liver:	n/a	n/a
6	YY1	chr15:78726429-78726648	K562	blood:	n/a	n/a
7	POLR2A	chr15:78726335-78726884	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78726576-78726626	HMEC	breast:	n/a
2	chr15:78726576-78726626	SK-N-MC	brain:	n/a
3	chr15:78726576-78726626	HepG2	liver:	n/a
4	chr15:78726576-78726626	SAEC	small airway:	n/a
5	chr15:78726576-78726626	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:78726576-78726626	ProgFib	skin:	n/a
7	chr15:78726576-78726626	HCM	heart:	n/a
8	chr15:78726576-78726626	HCPEpiC	choroid plexus:	n/a
9	chr15:78726576-78726626	HAEpiC	amniotic membrane:	n/a
10	chr15:78726576-78726626	SK-N-SH_RA	brain:	n/a
11	chr15:78726576-78726626	NT2-D1	testis:	n/a
12	chr15:78726576-78726626	PANC-1	pancreas:	n/a
13	chr15:78726576-78726626	A549	lung:	n/a
14	chr15:78726576-78726626	HNPCEpiC	eye:	n/a
15	chr15:78726576-78726626	HRE	kidney:	n/a
16	chr15:78726576-78726626	H1-hESC	embryonic stem cell:	embryo
17	chr15:78726576-78726626	T-47D	breast:	n/a
18	chr15:78726576-78726626	SK-N-SH	brain:	n/a
19	chr15:78726576-78726626	BE2_C	brain:	n/a
20	chr15:78726576-78726626	PrEC	prostate:	n/a
21	chr15:78726576-78726626	AG09309	skin:	n/a
22	chr15:78726576-78726626	SKMC	muscle:	n/a
23	chr15:78726576-78726626	HIPEpiC	eye:	n/a
24	chr15:78726576-78726626	U87	brain:	n/a
25	chr15:78726576-78726626	HUVEC	blood vessel:	n/a
26	chr15:78726576-78726626	ECC-1	luminal epithelium:	n/a
27	chr15:78726576-78726626	GM19239	blood:	n/a
28	chr15:78726576-78726626	Hela-S3	cervix:	n/a
29	chr15:78726576-78726626	CMK	blood:	n/a
30	chr15:78726576-78726626	AG04450	lung:	fetal
31	chr15:78726576-78726626	AG04449	skin:	fetal
32	chr15:78726576-78726626	HEK293	kidney:	embryo
33	chr15:78726576-78726626	GM06990	blood:	n/a
34	chr15:78726576-78726626	HCT-116	colon:	n/a
35	chr15:78726576-78726626	HCF	heart:	n/a
36	chr15:78726576-78726626	Hepatocyte	liver:	n/a
37	chr15:78726576-78726626	LNCaP	prostate:	n/a
38	chr15:78726576-78726626	ovcar-3	ovarian:	n/a
39	chr15:78726576-78726626	NHBE	bronchial:	n/a
40	chr15:78726576-78726626	AoSMC	blood vessel:	n/a
41	chr15:78726576-78726626	IMR90	lung:	fetal
42	chr15:78726576-78726626	HEEpiC	esophagus:	n/a
43	chr15:78726576-78726626	AG10803	skin:	n/a
44	chr15:78726576-78726626	GM12891	blood:	n/a
45	chr15:78726576-78726626	HL-60	blood:	n/a
46	chr15:78726576-78726626	GM12878	blood:	n/a
47	chr15:78726576-78726626	MCF10A-Er-Src	breast:	n/a
48	chr15:78726576-78726626	Caco-2	colon:	n/a
49	chr15:78726576-78726626	AG09319	gingival:	n/a
50	chr15:78726576-78726626	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78724540..78726628-chr15:78727492..78730355,3	K562	blood:
2	chr15:78722314..78725378-chr15:78725474..78727729,3	MCF-7	breast:

No data

Variant related genes	Relation type
IREB2	TF binding region
IREB2	CpG island
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11072767	0.86[YRI][hapmap]
rs11633585	1.00[CHB][hapmap]
rs11636732	1.00[CHB][hapmap]
rs12899226	1.00[CHB][hapmap]
rs12903575	1.00[CHB][hapmap]
rs12903839	1.00[CHB][hapmap]
rs12914367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1394372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1847528	0.86[YRI][hapmap]
rs2102264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568484	0.86[YRI][hapmap]
rs2568491	0.86[YRI][hapmap]
rs2568492	0.86[YRI][hapmap]
rs2656060	0.86[YRI][hapmap]
rs2938673	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958720	0.86[YRI][hapmap]
rs4887060	0.86[YRI][hapmap]
rs61157079	1.00[EUR][1000 genomes]
rs73461579	1.00[EUR][1000 genomes]
rs73461598	1.00[EUR][1000 genomes]
rs905741	0.84[YRI][hapmap]
rs905742	0.86[YRI][hapmap]
rs9972290	0.86[YRI][hapmap]

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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1627	chr15:78683761-78728604	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78698200-78729800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78720800-78728400	Weak transcription	K562	blood
3	chr15:78721000-78726600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr15:78725000-78729400	Weak transcription	Liver	Liver
5	chr15:78726000-78727200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:78726200-78726600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr15:78726200-78726800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:78726200-78727200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr15:78726400-78726600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr15:78726400-78726800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:78726400-78726800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:78726400-78729600	Weak transcription	Primary hematopoietic stem cells	blood

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