Variant report

Variant	rs190467762
Chromosome Location	chr1:154128182-154128183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154127903-154128214	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:154127428-154128204	K562	blood:	n/a	n/a
3	POLR2A	chr1:154126201-154128392	U87	brain:	n/a	n/a
4	POLR2A	chr1:154126673-154128315	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:154127957-154128319	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:154128162-154128303	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:154126850-154128357	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:154126077-154128299	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:154126931-154128239	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:154126854-154128608	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:154127370-154128385	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:154126532-154128374	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:154127360-154128463	GM12892	blood:	n/a	n/a
14	GATA1	chr1:154127472-154128477	PBDE	blood:	n/a	n/a
15	POLR2A	chr1:154126091-154128677	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:154127344-154128436	K562	blood:	n/a	n/a
17	POLR2A	chr1:154127729-154128193	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:154126919-154128203	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:154126883-154128299	HL-60	blood:	n/a	n/a
20	POLR2A	chr1:154126172-154128709	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:154128092-154128346	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:154126447-154128372	A549	lung:	n/a	n/a
23	POLR2A	chr1:154126938-154128434	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:154127212-154128352	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr1:154126864-154128753	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:154126284-154128518	K562	blood:	n/a	n/a
27	POLR2A	chr1:154126845-154129319	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:154126950-154128184	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153962389..153965646-chr1:154127758..154130394,3	K562	blood:
2	chr1:154122896..154125457-chr1:154127729..154131254,3	MCF-7	breast:
3	chr1:154127794..154129352-chr1:154153718..154155371,2	K562	blood:

No data

Variant related genes	Relation type
NUP210L	TF binding region
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv946404	chr1:154128123-154130312	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154112200-154138400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154124400-154129800	Weak transcription	Left Ventricle	heart
3	chr1:154125000-154130400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:154125200-154131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:154125600-154129800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154125600-154129800	Weak transcription	Gastric	stomach
7	chr1:154125600-154130000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:154125800-154129600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:154126200-154128200	Genic enhancers	Primary T cells from cord blood	blood
10	chr1:154126200-154128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:154126200-154128800	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr1:154126200-154128800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:154126200-154129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:154126200-154129400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:154126200-154129600	Weak transcription	HSMMtube	muscle
16	chr1:154126200-154130400	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr1:154126400-154128600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:154126400-154128600	Strong transcription	Thymus	Thymus
19	chr1:154126400-154129600	Genic enhancers	K562	blood
20	chr1:154126400-154129600	Genic enhancers	NHLF	lung
21	chr1:154126400-154129800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:154126400-154129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:154126400-154130400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:154126400-154133000	Weak transcription	Ovary	ovary
25	chr1:154126400-154146000	Strong transcription	HMEC	breast
26	chr1:154126600-154128200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:154126600-154129600	Weak transcription	HepG2	liver
28	chr1:154126600-154130200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:154126800-154128600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:154126800-154129800	Strong transcription	GM12878-XiMat	blood
31	chr1:154126800-154130000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:154126800-154130200	Weak transcription	Fetal Brain Male	brain
33	chr1:154126800-154131600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:154127000-154128200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:154127000-154128200	Genic enhancers	Fetal Stomach	stomach
36	chr1:154127000-154128400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:154127000-154128400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:154127000-154128400	Enhancers	Fetal Lung	lung
39	chr1:154127000-154128400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:154127000-154129400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:154127000-154129600	Strong transcription	Dnd41	blood
42	chr1:154127000-154130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:154127000-154130200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:154127000-154130200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:154127000-154130200	Strong transcription	Fetal Intestine Small	intestine
46	chr1:154127000-154131800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:154127000-154143400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:154127000-154143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
50	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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