Variant report

Variant	rs62019961
Chromosome Location	chr15:40404898-40404899
allele	G/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	POLR2A	chr15:40404881-40405375	GM12892	blood:	n/a	n/a
2	NFATC1	chr15:40404897-40405382	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40403075..40404942-chr15:40410264..40412250,2	K562	blood:
2	chr15:40358773..40361037-chr15:40403847..40405701,2	K562	blood:

Variant related genes	Relation type
BMF	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11853477	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1680156	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3759843	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62018159	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62019996	1.00[ASN][1000 genomes]
rs62019997	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62020025	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8023845	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038982	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:30 , 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	chr15:40403800-40407800	Enhancers	GM12878-XiMat	blood
22	chr15:40404000-40405000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr15:40404000-40405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:40404000-40405200	Enhancers	K562	blood
25	chr15:40404200-40405000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:40404200-40405200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:40404600-40405400	Enhancers	HepG2	liver
28	chr15:40404600-40407800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:40404800-40406200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:40404800-40407800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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