Variant report

Variant	rs552379
Chromosome Location	chr15:50540897-50540898
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	IRF1	chr15:50539699-50540962	K562	blood:	n/a	chr15:50540135-50540146 chr15:50540139-50540153 chr15:50540143-50540153 chr15:50540131-50540152 chr15:50540133-50540147 chr15:50540137-50540147 chr15:50540143-50540157 chr15:50540135-50540155 chr15:50540137-50540151
2	POLR2A	chr15:50539716-50541160	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50537821..50541238-chr15:50550138..50551900,3	MCF-7	breast:
2	chr15:50511012..50513797-chr15:50539300..50541656,2	MCF-7	breast:
3	chr15:50540149..50543619-chr15:50594891..50596907,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL494P	TF binding region
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1648344	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1793854	1.00[AMR][1000 genomes];0.88[EUR][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50532400-50549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50537200-50544000	Enhancers	Liver	Liver
3	chr15:50538600-50542400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:50538800-50541600	Enhancers	K562	blood
5	chr15:50539000-50541200	Enhancers	Spleen	Spleen
6	chr15:50539600-50541200	Enhancers	Primary B cells from peripheral blood	blood
7	chr15:50539600-50541200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:50539600-50541200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:50539600-50541400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:50539600-50541800	Enhancers	Fetal Thymus	thymus
11	chr15:50539600-50542600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:50539600-50544400	Enhancers	Hela-S3	cervix
13	chr15:50539800-50541000	Enhancers	Small Intestine	intestine
14	chr15:50539800-50541200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr15:50539800-50541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:50540000-50541600	Enhancers	Fetal Muscle Leg	muscle
17	chr15:50540200-50542000	Enhancers	HepG2	liver
18	chr15:50540200-50542400	Enhancers	HSMMtube	muscle
19	chr15:50540400-50541000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr15:50540400-50541000	Enhancers	Dnd41	blood
21	chr15:50540400-50541200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr15:50540400-50541400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:50540400-50541800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:50540400-50542200	Enhancers	Primary hematopoietic stem cells	blood
25	chr15:50540400-50542200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:50540400-50542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:50540600-50541200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr15:50540600-50541800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:50540600-50542200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:50540600-50542200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:50540800-50541000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr15:50540800-50541200	Enhancers	Primary B cells from cord blood	blood
33	chr15:50540800-50541600	Weak transcription	Right Atrium	heart
34	chr15:50540800-50541800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:50540800-50541800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr15:50540800-50542000	Enhancers	GM12878-XiMat	blood
37	chr15:50540800-50542200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:50540800-50542400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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