Variant report

Variant	rs11815201
Chromosome Location	chr10:54075240-54075241
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	MAX	chr10:54073032-54075312	A549	lung:	n/a	n/a
2	FOSL2	chr10:54074994-54076093	A549	lung:	n/a	chr10:54075935-54075944 chr10:54075724-54075734 chr10:54075724-54075734
3	POLR2A	chr10:54073615-54076920	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr10:54073295-54075277	IMR90	lung:	n/a	n/a
5	REST	chr10:54072922-54075349	A549	lung:	n/a	chr10:54073933-54073946
6	POLR2A	chr10:54072977-54075692	Gliobla	brain:	n/a	n/a
7	SP1	chr10:54073169-54075305	A549	lung:	n/a	chr10:54074927-54074937 chr10:54074910-54074919 chr10:54074913-54074927 chr10:54074927-54074936 chr10:54074926-54074938 chr10:54074905-54074914 chr10:54074909-54074921 chr10:54074923-54074937 chr10:54074911-54074920 chr10:54074926-54074938 chr10:54074910-54074920 chr10:54074909-54074921
8	POLR2A	chr10:54075111-54075415	HepG2	liver:	n/a	n/a
9	JUND	chr10:54073611-54075480	A549	lung:	n/a	n/a
10	POLR2A	chr10:54073464-54075557	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr10:54073525-54079363	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr10:54073092-54080655	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr10:54073646-54075420	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr10:54073034-54075851	A549	lung:	n/a	chr10:54075334-54075351 chr10:54075069-54075076 chr10:54075068-54075078
15	POLR2A	chr10:54074915-54076802	HCT-116	colon:	n/a	n/a
16	POLR2A	chr10:54074939-54075701	SK-N-SH	brain:	n/a	n/a
17	HEY1	chr10:54073574-54076765	HepG2	liver:	n/a	n/a
18	PML	chr10:54074956-54075405	MCF-7	breast:	n/a	n/a
19	GATA3	chr10:54072834-54077297	SK-N-SH	brain:	n/a	chr10:54076036-54076046 chr10:54075334-54075351 chr10:54075069-54075076 chr10:54075068-54075078
20	POLR2A	chr10:54074915-54075266	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr10:54072864-54080901	ProgFib	skin:	n/a	n/a
22	MAX	chr10:54072918-54075448	A549	lung:	n/a	chr10:54075399-54075409
23	BCL3	chr10:54074833-54076941	A549	lung:	n/a	chr10:54074906-54074919 chr10:54074911-54074920
24	POLR2A	chr10:54074945-54078566	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr10:54072955-54075835	MCF-7	breast:	n/a	n/a
26	TAF1	chr10:54073206-54076883	A549	lung:	n/a	n/a
27	CTCF	chr10:54072767-54075403	SK-N-SH	brain:	n/a	chr10:54073933-54073946
28	POLR2A	chr10:54072740-54080656	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr10:54073229-54079826	HUVEC	blood vessel:	n/a	n/a
30	TCF12	chr10:54072631-54080026	A549	lung:	n/a	n/a
31	USF1	chr10:54073324-54077167	A549	lung:	n/a	chr10:54074078-54074094
32	SP1	chr10:54072902-54075325	A549	lung:	n/a	chr10:54074927-54074937 chr10:54074910-54074919 chr10:54074913-54074927 chr10:54074927-54074936 chr10:54074926-54074938 chr10:54074905-54074914 chr10:54074909-54074921 chr10:54074923-54074937 chr10:54074911-54074920 chr10:54074926-54074938 chr10:54074910-54074920 chr10:54074909-54074921
33	POLR2A	chr10:54072772-54079176	HCT-116	colon:	n/a	n/a
34	TCF7L2	chr10:54075031-54075665	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr10:54073363-54076907	MCF-7	breast:	n/a	n/a
36	HA-E2F1	chr10:54072841-54075311	MCF-7	breast:	n/a	chr10:54074910-54074919 chr10:54072915-54072924
37	CHD1	chr10:54073374-54076258	IMR90	lung:	n/a	chr10:54075436-54075446
38	POLR2A	chr10:54072679-54080064	HUVEC	blood vessel:	n/a	n/a
39	SIN3AK20	chr10:54073384-54075815	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr10:54072716-54080807	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:54065577..54083492-chr10:54193846..54218961,120	MCF-7	breast:
2	chr10:54073525..54075924-chr10:54146848..54149629,2	MCF-7	breast:
3	chr10:54073396..54076476-chr10:54227833..54231095,3	MCF-7	breast:
4	chr10:54073032..54076598-chr10:54229475..54234592,10	MCF-7	breast:
5	chr10:54071324..54082180-chr10:54192987..54217560,81	MCF-7	breast:

Variant related genes	Relation type
PRKG1-AS1	TF binding region
ENSG00000213657	Chromatin interaction
ENSG00000231131	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11001584	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1528877	0.92[EUR][1000 genomes]
rs1569198	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1569199	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv895400	chr10:54073294-54094359	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54072800-54075800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:54072800-54075800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:54073000-54075800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:54073200-54075800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:54073400-54075400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:54073400-54075600	Active TSS	Brain Cingulate Gyrus	brain
7	chr10:54073400-54075800	Active TSS	HSMM	muscle
8	chr10:54073400-54075800	Active TSS	NHDF-Ad	bronchial
9	chr10:54073400-54076000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:54073400-54076200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:54073400-54076600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:54073600-54075400	Active TSS	HUVEC	blood vessel
13	chr10:54073600-54075600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:54073600-54075600	Active TSS	HSMMtube	muscle
15	chr10:54073600-54075800	Active TSS	NH-A	brain
16	chr10:54073600-54075800	Active TSS	NHLF	lung
17	chr10:54073600-54077000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr10:54073800-54075400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:54073800-54075400	Active TSS	Osteobl	bone
20	chr10:54073800-54076000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:54074200-54077000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:54074400-54076000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:54074400-54077400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr10:54074600-54075400	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr10:54074800-54075400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr10:54074800-54075400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr10:54074800-54075400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:54074800-54075400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:54074800-54075400	Bivalent/Poised TSS	HepG2	liver
30	chr10:54074800-54075600	Active TSS	Right Ventricle	heart
31	chr10:54074800-54075800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:54074800-54076400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:54074800-54076400	Active TSS	Placenta	Placenta
34	chr10:54074800-54076600	Active TSS	Fetal Kidney	kidney
35	chr10:54074800-54077800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:54074800-54078000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr10:54074800-54078000	Weak transcription	Spleen	Spleen
38	chr10:54075000-54076600	Flanking Active TSS	Hela-S3	cervix
39	chr10:54075000-54076800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:54075000-54076800	Transcr. at gene 5' and 3'	NHEK	skin
41	chr10:54075000-54078000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:54075000-54078400	Transcr. at gene 5' and 3'	A549	lung
43	chr10:54075200-54075600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:54075200-54075600	Enhancers	Brain Hippocampus Middle	brain
45	chr10:54075200-54077400	Transcr. at gene 5' and 3'	HMEC	breast

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