Variant report

Variant	rs580781
Chromosome Location	chr15:40405150-40405151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr15:40405027-40405361	GM12878	blood:	n/a	n/a
2	PBX3	chr15:40405017-40405303	GM12878	blood:	n/a	n/a
3	BHLHE40	chr15:40405010-40405400	K562	blood:	n/a	n/a
4	BCL3	chr15:40405031-40405344	GM12878	blood:	n/a	n/a
5	MYC	chr15:40405126-40405220	MCF-7	breast:	n/a	n/a
6	TCF3	chr15:40405047-40405263	GM12878	blood:	n/a	n/a
7	MYC	chr15:40405133-40405218	MCF-7	breast:	n/a	n/a
8	EGR1	chr15:40405070-40405318	K562	blood:	n/a	n/a
9	BCL3	chr15:40404936-40405420	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:40404881-40405375	GM12892	blood:	n/a	n/a
11	NFATC1	chr15:40404897-40405382	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:40405115-40405208	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:40405101-40405222	GM19239	blood:	n/a	n/a
14	EGR1	chr15:40405003-40405367	K562	blood:	n/a	n/a
15	POLR2A	chr15:40405094-40405296	MCF-7	breast:	n/a	n/a
16	EGR1	chr15:40405092-40405281	GM12878	blood:	n/a	n/a
17	NFIC	chr15:40404973-40405349	GM12878	blood:	n/a	n/a
18	NFATC1	chr15:40404934-40405355	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40358773..40361037-chr15:40403847..40405701,2	K562	blood:

No data

Variant related genes	Relation type
BMF	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1471584	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs537455	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs539846	0.83[AFR][1000 genomes]
rs56248706	0.83[ASN][1000 genomes]
rs8031450	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8033229	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9635304	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40401800-40407200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:40401800-40408000	Weak transcription	Spleen	Spleen
3	chr15:40402000-40405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:40402000-40405600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:40402000-40406000	Weak transcription	Primary B cells from cord blood	blood
6	chr15:40402000-40406400	Weak transcription	Dnd41	blood
7	chr15:40402000-40407400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:40402000-40407800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:40402000-40407800	Weak transcription	HMEC	breast
10	chr15:40402000-40408200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:40402000-40418600	Weak transcription	Right Atrium	heart
12	chr15:40402200-40405400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:40402200-40406000	Weak transcription	Fetal Thymus	thymus
14	chr15:40402200-40406000	Weak transcription	Hela-S3	cervix
15	chr15:40402200-40407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:40402200-40407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:40402600-40405400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:40402600-40407600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:40403000-40405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40403800-40407800	Enhancers	GM12878-XiMat	blood
21	chr15:40404000-40405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:40404000-40405200	Enhancers	K562	blood
23	chr15:40404200-40405200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:40404600-40405400	Enhancers	HepG2	liver
25	chr15:40404600-40407800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:40404800-40406200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:40404800-40407800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:40405000-40405200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:40405000-40405400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40405000-40407600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:40405000-40407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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