Variant report

Variant	rs2233850
Chromosome Location	chr1:151317146-151317147
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151315562-151317163	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:151315600-151317682	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:151315562-151317160	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:151313276-151317851	GM12892	blood:	n/a	n/a
6	EBF1	chr1:151316911-151317364	GM12878	blood:	n/a	chr1:151317076-151317087
7	POLR2A	chr1:151315564-151317939	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151258574..151260250-chr1:151316879..151319085,2	MCF-7	breast:
2	chr1:151273432..151279540-chr1:151311017..151317396,9	MCF-7	breast:
3	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
4	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
5	chr1:151297227..151300315-chr1:151316951..151319680,4	K562	blood:
6	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
7	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
8	chr1:151299325..151301340-chr1:151315065..151318235,3	K562	blood:
9	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
10	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:

No data

Variant related genes	Relation type
RFX5	TF binding region
ENSG00000237976	TF binding region
ENSG00000232671	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000265753	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2233841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2233842	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs2233855	1.00[YRI][hapmap]
rs35954676	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41299615	1.00[AMR][1000 genomes]
rs7517596	1.00[AMR][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
2	chr1:151313400-151318800	Weak transcription	HSMMtube	muscle
3	chr1:151313600-151318200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151313600-151318200	Weak transcription	Fetal Brain Male	brain
5	chr1:151313800-151318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:151313800-151318400	Weak transcription	Stomach Mucosa	stomach
7	chr1:151313800-151318800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
9	chr1:151314000-151317400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:151314000-151318200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:151314000-151318200	Strong transcription	Fetal Intestine Large	intestine
12	chr1:151314000-151318200	Strong transcription	Fetal Muscle Leg	muscle
13	chr1:151314200-151318200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:151314200-151318200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:151314200-151318200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:151314400-151317400	Strong transcription	Primary hematopoietic stem cells	blood
17	chr1:151314400-151317400	Strong transcription	Brain Germinal Matrix	brain
18	chr1:151314400-151317400	Strong transcription	Fetal Brain Female	brain
19	chr1:151314400-151317400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:151314400-151317600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:151314400-151317600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:151314400-151317800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:151314400-151317800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:151314400-151317800	Strong transcription	Brain Anterior Caudate	brain
25	chr1:151314400-151318000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:151314400-151318200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:151314400-151318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:151314400-151318200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:151314400-151318200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:151314400-151318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:151314400-151318200	Weak transcription	Fetal Heart	heart
32	chr1:151314400-151318400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:151314400-151318400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:151314400-151318600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr1:151314600-151317400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:151314600-151317400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:151314600-151317600	Strong transcription	Adipose Nuclei	Adipose
38	chr1:151314600-151317600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:151314600-151318200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:151314600-151318200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:151314600-151318200	Strong transcription	Spleen	Spleen
42	chr1:151314800-151317400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:151314800-151317400	Strong transcription	Gastric	stomach
44	chr1:151314800-151317600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:151314800-151317600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr1:151314800-151317600	Strong transcription	Fetal Intestine Small	intestine
47	chr1:151314800-151317800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:151314800-151317800	Strong transcription	Colonic Mucosa	Colon
49	chr1:151314800-151317800	Strong transcription	Lung	lung
50	chr1:151314800-151318200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links