Variant report

Variant	rs16832245
Chromosome Location	chr1:45253106-45253107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
2	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
3	chr1:45246681..45259677-chr1:45281336..45290057,25	MCF-7	breast:
4	chr1:45194501..45200206-chr1:45249194..45253143,8	MCF-7	breast:
5	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117425	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000188396	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11573591	1.00[TSI][hapmap]
rs16832247	1.00[TSI][hapmap]
rs17880829	1.00[TSI][hapmap]
rs17881089	1.00[TSI][hapmap]

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	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	nsv947252	chr1:45242176-45258816	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45245000-45258600	Weak transcription	Hela-S3	cervix
2	chr1:45250200-45253200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:45252000-45255400	Weak transcription	K562	blood
4	chr1:45252400-45253800	Weak transcription	NHDF-Ad	bronchial
5	chr1:45252400-45255400	Weak transcription	NHEK	skin
6	chr1:45252400-45255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:45252400-45255800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:45252400-45256800	Weak transcription	Stomach Mucosa	stomach
9	chr1:45252400-45264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
11	chr1:45252400-45265600	Weak transcription	Gastric	stomach
12	chr1:45252600-45253400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:45252600-45254000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:45252600-45254000	Weak transcription	Spleen	Spleen
15	chr1:45252600-45254200	Weak transcription	Fetal Brain Female	brain
16	chr1:45252600-45256600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:45252600-45256800	Weak transcription	Pancreas	Pancrea
18	chr1:45252600-45256800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:45252600-45257000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:45252600-45257200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:45252600-45258800	Weak transcription	Esophagus	oesophagus
22	chr1:45252600-45258800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:45252600-45259000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:45252600-45262200	Weak transcription	Placenta	Placenta
25	chr1:45252600-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:45252800-45253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:45252800-45254000	Bivalent Enhancer	HepG2	liver
28	chr1:45252800-45255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:45252800-45255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:45252800-45255600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:45252800-45255600	Weak transcription	HMEC	breast
32	chr1:45252800-45257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:45252800-45257200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:45252800-45258800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:45252800-45258800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:45252800-45259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:45253000-45253400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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