Variant report

Variant	rs631665
Chromosome Location	chr15:40404316-40404317
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr15:40404239-40404663	HEK293-T-REx	kidney:	n/a	chr15:40404504-40404525 chr15:40404588-40404597 chr15:40404280-40404289 chr15:40404480-40404501
2	NFYB	chr15:40404228-40404469	K562	blood:	n/a	n/a
3	SIN3A	chr15:40404178-40404411	H1-hESC	embryonic stem cell:	n/a	n/a
4	RFX5	chr15:40404193-40404602	HepG2	liver:	n/a	chr15:40404386-40404401
5	RCOR1	chr15:40404176-40404369	HepG2	liver:	n/a	n/a
6	MAFK	chr15:40404291-40404477	HepG2	liver:	n/a	n/a
7	RAD21	chr15:40404091-40404427	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40401050..40404743-chr15:40451589..40454397,3	K562	blood:
2	chr15:40403075..40404942-chr15:40410264..40412250,2	K562	blood:
3	chr15:40358773..40361037-chr15:40403847..40405701,2	K562	blood:

Variant related genes	Relation type
BMF	TF binding region
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11858141	0.82[JPT][hapmap]
rs12148376	0.89[ASN][1000 genomes]
rs16970385	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16970391	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28501335	0.82[ASN][1000 genomes]
rs28792493	0.82[ASN][1000 genomes]
rs2934776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3759838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs534838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs537600	0.92[AFR][1000 genomes]
rs57543880	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58902242	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58995872	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59793325	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61436050	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs796389	0.91[ASN][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	chr15:40402000-40405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:40402000-40405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:40402000-40405600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:40402000-40406000	Weak transcription	Primary B cells from cord blood	blood
7	chr15:40402000-40406400	Weak transcription	Dnd41	blood
8	chr15:40402000-40407400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:40402000-40407800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:40402000-40407800	Weak transcription	HMEC	breast
11	chr15:40402000-40408200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:40402000-40418600	Weak transcription	Right Atrium	heart
13	chr15:40402200-40405400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:40402200-40406000	Weak transcription	Fetal Thymus	thymus
15	chr15:40402200-40406000	Weak transcription	Hela-S3	cervix
16	chr15:40402200-40407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:40402200-40407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:40402600-40405400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:40402600-40407600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:40403000-40405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40403800-40404600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:40403800-40404800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:40403800-40407800	Enhancers	GM12878-XiMat	blood
24	chr15:40404000-40404600	Flanking Active TSS	HepG2	liver
25	chr15:40404000-40405000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr15:40404000-40405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:40404000-40405200	Enhancers	K562	blood
28	chr15:40404200-40404600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:40404200-40404800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:40404200-40405000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr15:40404200-40405200	Enhancers	HUES6 Cell Line	embryonic stem cell

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