Variant report

Variant	rs34419559
Chromosome Location	chr15:75077580-75077581
allele	C/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	chr15:75077574-75083240	GM19193	blood:	n/a	n/a
2	POLR2A	chr15:75077553-75078403	GM12891	blood:	n/a	n/a
3	RUNX3	chr15:75077412-75078648	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75077467-75078533	GM12878	blood:	n/a	n/a
5	SIN3A	chr15:75077193-75078324	GM12878	blood:	n/a	chr15:75078222-75078235
6	POLR2A	chr15:75077541-75078323	GM12891	blood:	n/a	n/a
7	WRNIP1	chr15:75075080-75078241	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:75076731-75083396	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
10	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:75074913-75078439	GM12878	blood:	n/a	n/a
12	EBF1	chr15:75077564-75078148	GM12878	blood:	n/a	n/a
13	NFIC	chr15:75076764-75077834	GM12878	blood:	n/a	n/a
14	MTA3	chr15:75074835-75078490	GM12878	blood:	n/a	n/a
15	PML	chr15:75075852-75078332	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:75077372-75078434	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:75077543-75078347	GM18951	blood:	n/a	n/a
18	BCLAF1	chr15:75077351-75078389	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:75072603-75078342	GM18505	blood:	n/a	n/a
20	POLR2A	chr15:75075481-75078388	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:75077405-75078353	GM12892	blood:	n/a	n/a
22	MTA3	chr15:75077119-75078320	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:75072699-75083327	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:75077577-75077899	GM12878	blood:	n/a	n/a
25	RUNX3	chr15:75077392-75078819	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:75077538-75078373	GM12891	blood:	n/a	n/a
27	CTCF	chr15:75077540-75077690	GM12864	blood:	n/a	n/a
28	EBF1	chr15:75077071-75078399	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:75075052-75083417	GM12891	blood:	n/a	n/a
30	MXI1	chr15:75075571-75078430	GM12878	blood:	n/a	n/a
31	MAX	chr15:75075598-75077691	GM12878	blood:	n/a	chr15:75075992-75076005 chr15:75075994-75076003 chr15:75075994-75076004 chr15:75075993-75076004 chr15:75075992-75076005 chr15:75075993-75076003 chr15:75075993-75076004

No.	Distal block	Cell Line	Cell type
1	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
2	chr15:75043196..75045391-chr15:75075402..75077625,2	K562	blood:
3	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
4	chr15:75075890..75077943-chr15:75083927..75085940,3	K562	blood:
5	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
6	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
7	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
8	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
9	chr15:75069513..75071369-chr15:75076004..75078063,2	K562	blood:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000103653	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000140474	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17861118	1.00[AFR][1000 genomes]
rs34282744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75075000-75077600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr15:75075000-75077600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr15:75075000-75077600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:75075000-75078200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:75075000-75078400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75075000-75078800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:75075200-75078200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr15:75075600-75077600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr15:75075600-75077600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr15:75075600-75080800	Enhancers	Fetal Heart	heart
11	chr15:75075600-75083400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:75075800-75078200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:75075800-75079600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
14	chr15:75075800-75082000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr15:75076000-75077800	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr15:75076000-75079800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr15:75076000-75080400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:75076000-75080600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:75076000-75080800	Enhancers	Fetal Brain Male	brain
20	chr15:75076200-75078200	Enhancers	Pancreas	Pancrea
21	chr15:75076200-75079400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
22	chr15:75076200-75080000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:75076200-75080000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:75076200-75080000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:75076200-75080200	Enhancers	Psoas Muscle	Psoas
26	chr15:75076200-75080200	Enhancers	Stomach Mucosa	stomach
27	chr15:75076400-75077600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:75076400-75077600	Active TSS	Rectal Smooth Muscle	rectum
29	chr15:75076400-75077600	Enhancers	Small Intestine	intestine
30	chr15:75076400-75077600	Enhancers	Osteobl	bone
31	chr15:75076400-75079200	Weak transcription	A549	lung
32	chr15:75076400-75079800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:75076400-75079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:75076400-75080000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:75076400-75080000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:75076400-75082200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:75076400-75083200	Enhancers	Colon Smooth Muscle	Colon
38	chr15:75076400-75083400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr15:75076400-75083400	Genic enhancers	Fetal Stomach	stomach
40	chr15:75076400-75083400	Enhancers	Right Ventricle	heart
41	chr15:75076400-75084200	Enhancers	Spleen	Spleen
42	chr15:75076400-75085800	Enhancers	Left Ventricle	heart
43	chr15:75076600-75077600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:75076600-75077600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:75076600-75077600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:75076600-75077600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:75076600-75077600	Enhancers	Esophagus	oesophagus
48	chr15:75076600-75077600	Weak transcription	Fetal Lung	lung
49	chr15:75076600-75077600	Weak transcription	Gastric	stomach
50	chr15:75076600-75077800	Weak transcription	Aorta	Aorta

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