Variant report

Variant	rs1752386
Chromosome Location	chr1:151316161-151316162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151315763-151316694	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:151316093-151317077	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:151315423-151316977	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:151316070-151316373	K562	blood:	n/a	n/a
5	POLR2A	chr1:151315562-151317163	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:151315640-151316873	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:151315641-151317116	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:151315810-151316892	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:151315600-151317682	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:151316066-151316424	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:151315562-151317160	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:151315786-151317048	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:151316076-151316351	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:151313276-151317851	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:151315564-151317939	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151273432..151279540-chr1:151311017..151317396,9	MCF-7	breast:
2	chr1:151254509..151256967-chr1:151315222..151316855,2	MCF-7	breast:
3	chr1:151313518..151316367-chr1:151341294..151344531,3	MCF-7	breast:
4	chr1:151314289..151316701-chr1:151321408..151323324,2	MCF-7	breast:
5	chr1:151302813..151304783-chr1:151313875..151316728,2	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	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
10	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
11	chr1:151226640..151228529-chr1:151313370..151316215,2	MCF-7	breast:
12	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
13	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
14	chr1:151313499..151316475-chr1:151369793..151372161,3	MCF-7	breast:
15	chr1:151262167..151264469-chr1:151313266..151316193,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237976	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000159377	Chromatin interaction

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

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

rs_ID	r²[population]
rs1752379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661347	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:125 , 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	chr1:151313600-151316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:151313600-151318200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:151313600-151318200	Weak transcription	Fetal Brain Male	brain
6	chr1:151313800-151316400	Strong transcription	Fetal Thymus	thymus
7	chr1:151313800-151318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:151313800-151318400	Weak transcription	Stomach Mucosa	stomach
9	chr1:151313800-151318800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
11	chr1:151314000-151316400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:151314000-151316600	Strong transcription	Primary T cells from cord blood	blood
13	chr1:151314000-151316800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:151314000-151316800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:151314000-151316800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151314000-151317000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:151314000-151317400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:151314000-151318200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:151314000-151318200	Strong transcription	Fetal Intestine Large	intestine
20	chr1:151314000-151318200	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:151314200-151316600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:151314200-151317000	Strong transcription	Primary B cells from cord blood	blood
23	chr1:151314200-151318200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr1:151314200-151318200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:151314200-151318200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:151314400-151316200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:151314400-151316400	Strong transcription	Thymus	Thymus
28	chr1:151314400-151317400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:151314400-151317400	Strong transcription	Brain Germinal Matrix	brain
30	chr1:151314400-151317400	Strong transcription	Fetal Brain Female	brain
31	chr1:151314400-151317400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:151314400-151317600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:151314400-151317600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:151314400-151317800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:151314400-151317800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:151314400-151317800	Strong transcription	Brain Anterior Caudate	brain
37	chr1:151314400-151318000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:151314400-151318200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:151314400-151318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:151314400-151318200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:151314400-151318200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:151314400-151318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:151314400-151318200	Weak transcription	Fetal Heart	heart
44	chr1:151314400-151318400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:151314400-151318400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:151314400-151318600	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr1:151314600-151316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:151314600-151316600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:151314600-151316600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:151314600-151317400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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