Variant report

Variant	rs371226206
Chromosome Location	chr1:45269930-45269931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45269820-45270003	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:45269000-45270038	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:45267436-45270498	HCT-116	colon:	n/a	n/a
4	POLR2A	chr1:45269578-45270301	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:45268260-45270299	A549	lung:	n/a	n/a
6	POLR2A	chr1:45269523-45269948	HCT-116	colon:	n/a	n/a
7	POLR2A	chr1:45269040-45270010	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:45267267-45270518	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:45268939-45270587	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:45269717-45270204	K562	blood:	n/a	n/a
11	POLR2A	chr1:45267248-45270541	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:45269825-45270547	K562	blood:	n/a	n/a
13	HEY1	chr1:45268760-45270383	K562	blood:	n/a	n/a
14	POLR2A	chr1:45268871-45270543	K562	blood:	n/a	n/a
15	POLR2A	chr1:45269168-45269969	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:45268884-45270109	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:45269687-45270019	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
2	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
3	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
4	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
5	chr1:45240969..45242475-chr1:45269379..45271647,2	MCF-7	breast:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45269464..45270109-chr15:65596747..65597319,2	Hela-S3	cervix:
8	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
PLK3	TF binding region
BTBD19	TF binding region
ENSG00000207421	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers 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	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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	108 gene(s)	inside rSNPs	diseases
13	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv546147	chr1:45264874-45271097	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
15	esv3354434	chr1:45269765-45274063	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 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	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45266200-45270400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:45266800-45272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:45267200-45270200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:45267200-45270400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr1:45267400-45272800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr1:45267600-45270200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
9	chr1:45267600-45270400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:45267600-45272800	Genic enhancers	Spleen	Spleen
11	chr1:45267800-45272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:45268000-45272400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:45268200-45270000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:45268200-45270000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:45268200-45271800	Weak transcription	Fetal Heart	heart
16	chr1:45268200-45271800	Weak transcription	Psoas Muscle	Psoas
17	chr1:45268200-45272200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:45268200-45272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:45268200-45272400	Genic enhancers	Pancreas	Pancrea
20	chr1:45268200-45272400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:45268200-45272400	Genic enhancers	Stomach Smooth Muscle	stomach
22	chr1:45268200-45272600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:45268200-45272600	Genic enhancers	Lung	lung
24	chr1:45268200-45274200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:45268400-45270200	Genic enhancers	Brain Cingulate Gyrus	brain
26	chr1:45268400-45270400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:45268400-45270600	Strong transcription	Fetal Lung	lung
28	chr1:45268400-45271600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:45268400-45271800	Strong transcription	Aorta	Aorta
32	chr1:45268400-45271800	Strong transcription	Ovary	ovary
33	chr1:45268400-45271800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:45268400-45271800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:45268400-45272400	Strong transcription	Fetal Stomach	stomach
36	chr1:45268400-45272600	Genic enhancers	Right Ventricle	heart
37	chr1:45268400-45272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:45268400-45272800	Genic enhancers	Placenta	Placenta
39	chr1:45268400-45272800	Strong transcription	Dnd41	blood
40	chr1:45268400-45273200	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr1:45268600-45270400	Genic enhancers	Brain Anterior Caudate	brain
42	chr1:45268600-45270400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr1:45268600-45271000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:45268600-45271200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:45268600-45271200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:45268600-45271400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:45268600-45271600	Strong transcription	Liver	Liver
48	chr1:45268600-45271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:45268600-45271800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:45268600-45272000	Strong transcription	Placenta Amnion	Placenta Amnion

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