Variant report

Variant	rs2233855
Chromosome Location	chr1:151315018-151315019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 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	chr1:151314844-151315028	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:151313008-151315417	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:151313225-151315459	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:151313254-151315367	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:151314845-151315049	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:151313881-151315107	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:151314825-151315244	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:151314308-151315384	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:151313166-151315556	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:151313209-151315311	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:151313243-151315386	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:151313239-151315293	GM12891	blood:	n/a	n/a
16	POLR2A	chr1:151314877-151315380	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:151313215-151315507	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:151314328-151315380	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:151313276-151317851	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:151312954-151315137	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:151314445-151315272	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:151314779-151315594	K562	blood:	n/a	n/a

No data

(count:22 , 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	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
4	chr1:151263880..151268121-chr1:151311967..151315494,5	MCF-7	breast:
5	chr1:151313518..151316367-chr1:151341294..151344531,3	MCF-7	breast:
6	chr1:151314289..151316701-chr1:151321408..151323324,2	MCF-7	breast:
7	chr1:151253109..151257431-chr1:151311446..151315369,6	MCF-7	breast:
8	chr1:151302813..151304783-chr1:151313875..151316728,2	K562	blood:
9	chr1:151313664..151315822-chr1:151337463..151339471,3	MCF-7	breast:
10	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
11	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
12	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
13	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
14	chr1:151226640..151228529-chr1:151313370..151316215,2	MCF-7	breast:
15	chr1:151312776..151315996-chr1:151344524..151347605,3	MCF-7	breast:
16	chr1:151269975..151273254-chr1:151312272..151315757,4	MCF-7	breast:
17	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
18	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
19	chr1:151313762..151315694-chr1:151431128..151433182,2	MCF-7	breast:
20	chr1:151313790..151315943-chr1:151511775..151514489,2	MCF-7	breast:
21	chr1:151313499..151316475-chr1:151369793..151372161,3	MCF-7	breast:
22	chr1:151262167..151264469-chr1:151313266..151316193,3	K562	blood:

No data

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

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

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

rs_ID	r²[population]
rs12077958	1.00[TSI][hapmap]
rs2233850	1.00[YRI][hapmap]
rs35954676	1.00[YRI][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	chr1:151301200-151315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:151301200-151315600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
4	chr1:151301400-151316000	Weak transcription	Fetal Kidney	kidney
5	chr1:151312400-151315200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:151313000-151315200	Weak transcription	Ovary	ovary
7	chr1:151313400-151315200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:151313400-151315200	Weak transcription	Liver	Liver
9	chr1:151313400-151315200	Weak transcription	Osteobl	bone
10	chr1:151313400-151315800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:151313400-151318800	Weak transcription	HSMMtube	muscle
12	chr1:151313600-151315400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:151313600-151315400	Weak transcription	NHEK	skin
14	chr1:151313600-151315800	Weak transcription	Fetal Lung	lung
15	chr1:151313600-151315800	Weak transcription	HepG2	liver
16	chr1:151313600-151316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:151313600-151318200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:151313600-151318200	Weak transcription	Fetal Brain Male	brain
19	chr1:151313800-151315200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:151313800-151315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:151313800-151315600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:151313800-151315600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:151313800-151315600	Weak transcription	HMEC	breast
24	chr1:151313800-151315600	Weak transcription	HUVEC	blood vessel
25	chr1:151313800-151315800	Weak transcription	NH-A	brain
26	chr1:151313800-151315800	Weak transcription	NHDF-Ad	bronchial
27	chr1:151313800-151316400	Strong transcription	Fetal Thymus	thymus
28	chr1:151313800-151318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:151313800-151318400	Weak transcription	Stomach Mucosa	stomach
30	chr1:151313800-151318800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
32	chr1:151314000-151315200	Genic enhancers	Dnd41	blood
33	chr1:151314000-151315200	Weak transcription	HSMM	muscle
34	chr1:151314000-151315600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:151314000-151315800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:151314000-151315800	Weak transcription	Brain Substantia Nigra	brain
37	chr1:151314000-151316400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:151314000-151316600	Strong transcription	Primary T cells from cord blood	blood
39	chr1:151314000-151316800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:151314000-151316800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:151314000-151316800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:151314000-151317000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:151314000-151317400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:151314000-151318200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:151314000-151318200	Strong transcription	Fetal Intestine Large	intestine
46	chr1:151314000-151318200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:151314200-151315800	Weak transcription	K562	blood
48	chr1:151314200-151316000	Strong transcription	GM12878-XiMat	blood
49	chr1:151314200-151316600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:151314200-151317000	Strong transcription	Primary B cells from cord blood	blood

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