Variant report

Variant	rs2233856
Chromosome Location	chr1:151314823-151314824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151314334-151315116	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:151314817-151315283	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:151313008-151315417	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:151313225-151315459	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:151313254-151315367	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:151314796-151314824	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:151313881-151315107	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:151314308-151315384	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:151313166-151315556	GM12892	blood:	n/a	n/a
11	POLR2A	chr1:151313209-151315311	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:151313243-151315386	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:151313239-151315293	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:151313215-151315507	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:151314328-151315380	GM12891	blood:	n/a	n/a
16	POLR2A	chr1:151313276-151317851	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:151312954-151315137	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:151314445-151315272	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:151314779-151315594	K562	blood:	n/a	n/a
20	POLR2A	chr1:151314398-151314842	PANC-1	pancreas:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151273432..151279540-chr1:151311017..151317396,9	MCF-7	breast:
2	chr1:151313070..151315906-chr1:234744981..234746645,2	MCF-7	breast:
3	chr1:151272720..151276474-chr1:151311902..151314957,3	K562	blood:
4	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
5	chr1:151263880..151268121-chr1:151311967..151315494,5	MCF-7	breast:
6	chr1:151313518..151316367-chr1:151341294..151344531,3	MCF-7	breast:
7	chr1:151314289..151316701-chr1:151321408..151323324,2	MCF-7	breast:
8	chr1:151253109..151257431-chr1:151311446..151315369,6	MCF-7	breast:
9	chr1:151302813..151304783-chr1:151313875..151316728,2	K562	blood:
10	chr1:151313664..151315822-chr1:151337463..151339471,3	MCF-7	breast:
11	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
12	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
13	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
14	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
15	chr1:151226640..151228529-chr1:151313370..151316215,2	MCF-7	breast:
16	chr1:151312776..151315996-chr1:151344524..151347605,3	MCF-7	breast:
17	chr1:151269975..151273254-chr1:151312272..151315757,4	MCF-7	breast:
18	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
19	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
20	chr1:151313762..151315694-chr1:151431128..151433182,2	MCF-7	breast:
21	chr1:151313790..151315943-chr1:151511775..151514489,2	MCF-7	breast:
22	chr1:151313499..151316475-chr1:151369793..151372161,3	MCF-7	breast:
23	chr1:151262167..151264469-chr1:151313266..151316193,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237976	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000168264	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143416	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12076892	1.00[LWK][hapmap]
rs12745008	1.00[LWK][hapmap]
rs3811407	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151301000-151315000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151301200-151315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:151301200-151315600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
5	chr1:151301400-151316000	Weak transcription	Fetal Kidney	kidney
6	chr1:151306000-151315000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151311600-151315000	Weak transcription	Placenta	Placenta
8	chr1:151311600-151315000	Weak transcription	Right Ventricle	heart
9	chr1:151312200-151315000	Weak transcription	Esophagus	oesophagus
10	chr1:151312400-151315200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:151313000-151315200	Weak transcription	Ovary	ovary
12	chr1:151313400-151315000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:151313400-151315000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:151313400-151315000	Enhancers	Hela-S3	cervix
15	chr1:151313400-151315000	Weak transcription	NHLF	lung
16	chr1:151313400-151315200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:151313400-151315200	Weak transcription	Liver	Liver
18	chr1:151313400-151315200	Weak transcription	Osteobl	bone
19	chr1:151313400-151315800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151313400-151318800	Weak transcription	HSMMtube	muscle
21	chr1:151313600-151315400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:151313600-151315400	Weak transcription	NHEK	skin
23	chr1:151313600-151315800	Weak transcription	Fetal Lung	lung
24	chr1:151313600-151315800	Weak transcription	HepG2	liver
25	chr1:151313600-151316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:151313600-151318200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:151313600-151318200	Weak transcription	Fetal Brain Male	brain
28	chr1:151313800-151315000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:151313800-151315000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:151313800-151315200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:151313800-151315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:151313800-151315600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:151313800-151315600	Weak transcription	Brain Angular Gyrus	brain
34	chr1:151313800-151315600	Weak transcription	HMEC	breast
35	chr1:151313800-151315600	Weak transcription	HUVEC	blood vessel
36	chr1:151313800-151315800	Weak transcription	NH-A	brain
37	chr1:151313800-151315800	Weak transcription	NHDF-Ad	bronchial
38	chr1:151313800-151316400	Strong transcription	Fetal Thymus	thymus
39	chr1:151313800-151318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:151313800-151318400	Weak transcription	Stomach Mucosa	stomach
41	chr1:151313800-151318800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
43	chr1:151314000-151315000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:151314000-151315200	Genic enhancers	Dnd41	blood
45	chr1:151314000-151315200	Weak transcription	HSMM	muscle
46	chr1:151314000-151315600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:151314000-151315800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:151314000-151315800	Weak transcription	Brain Substantia Nigra	brain
49	chr1:151314000-151316400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:151314000-151316600	Strong transcription	Primary T cells from cord blood	blood

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