Variant report

Variant	rs11265303
Chromosome Location	chr1:154189963-154189964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154189672-154190174	K562	blood:	n/a	n/a
2	POLR2A	chr1:154189732-154190140	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:154189836-154189985	HepG2	liver:	n/a	n/a
4	MAX	chr1:154189836-154190013	NB4	blood:	n/a	chr1:154189952-154189962
5	POLR2A	chr1:154188430-154195179	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:154189850-154190042	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:154189711-154190332	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:154188772-154191423	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:154189711-154190091	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:154189750-154190043	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:154189727-154189987	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154166360..154171923-chr1:154189576..154194577,9	K562	blood:
2	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
3	chr1:154189134..154191972-chr1:154235587..154237500,3	MCF-7	breast:
4	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
5	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:

No data

Variant related genes	Relation type
UBAP2L	TF binding region
C1orf43	TF binding region
ENSG00000177954	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000215938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11265201	0.82[EUR][1000 genomes]
rs11265310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11265398	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12063890	0.82[EUR][1000 genomes]
rs12070842	0.82[EUR][1000 genomes]
rs12091348	0.83[GIH][hapmap]
rs4845607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59550472	0.82[EUR][1000 genomes]
rs6661996	0.82[EUR][1000 genomes]
rs6672584	0.82[EUR][1000 genomes]
rs7654	1.00[ASW][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9628669	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154172200-154190000	Weak transcription	Fetal Heart	heart
2	chr1:154177000-154191000	Strong transcription	Fetal Stomach	stomach
3	chr1:154177000-154192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154177200-154190200	Strong transcription	Primary T cells from cord blood	blood
5	chr1:154177400-154190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:154177600-154191400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154177800-154190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:154177800-154190600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:154177800-154190600	Strong transcription	Fetal Intestine Small	intestine
10	chr1:154177800-154191000	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:154177800-154191400	Strong transcription	Placenta	Placenta
12	chr1:154178200-154191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:154179400-154191000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:154180000-154191000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154180200-154190800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:154183800-154191000	Weak transcription	Right Atrium	heart
17	chr1:154185200-154190000	Weak transcription	Esophagus	oesophagus
18	chr1:154185200-154192000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:154186200-154191000	Weak transcription	Fetal Brain Male	brain
20	chr1:154186600-154190000	Weak transcription	Psoas Muscle	Psoas
21	chr1:154187000-154190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154187000-154190000	Weak transcription	Ovary	ovary
23	chr1:154187000-154190000	Weak transcription	Spleen	Spleen
24	chr1:154187000-154190400	Weak transcription	Fetal Brain Female	brain
25	chr1:154187000-154190400	Weak transcription	Small Intestine	intestine
26	chr1:154187000-154190400	Weak transcription	HSMMtube	muscle
27	chr1:154187000-154190400	Weak transcription	NHDF-Ad	bronchial
28	chr1:154187000-154190800	Weak transcription	Aorta	Aorta
29	chr1:154187000-154190800	Weak transcription	Right Ventricle	heart
30	chr1:154187000-154191400	Weak transcription	Colonic Mucosa	Colon
31	chr1:154187000-154191400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:154187000-154191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:154187200-154190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:154187200-154190000	Weak transcription	Primary B cells from cord blood	blood
35	chr1:154187200-154190000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:154187200-154190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:154187200-154190000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:154187200-154190000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:154187200-154190200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:154187200-154190200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:154187200-154190400	Weak transcription	Fetal Kidney	kidney
42	chr1:154187200-154190400	Weak transcription	NHLF	lung
43	chr1:154187200-154190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:154187200-154191000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:154187200-154191400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:154187400-154190400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:154187400-154190400	Weak transcription	Stomach Mucosa	stomach
48	chr1:154187600-154190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:154187600-154191000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:154188000-154190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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