Variant report

Variant	rs629874
Chromosome Location	chr12:50420468-50420469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50358386..50360982-chr12:50417949..50420523,2	MCF-7	breast:
2	chr12:50417982..50420791-chr12:50450221..50452010,2	MCF-7	breast:
3	chr12:50235029..50238212-chr12:50416884..50420841,4	K562	blood:
4	chr12:50410558..50416843-chr12:50417238..50421054,9	MCF-7	breast:
5	chr12:50419178..50421274-chr12:50425998..50428027,2	MCF-7	breast:
6	chr12:50359827..50361683-chr12:50418817..50420770,2	MCF-7	breast:
7	chr12:50419417..50420920-chr12:50438136..50440896,2	K562	blood:
8	chr12:50418073..50421025-chr12:50559963..50562659,2	MCF-7	breast:
9	chr12:50024399..50026763-chr12:50420346..50422300,2	MCF-7	breast:
10	chr12:50419454..50422134-chr12:50422205..50423893,2	MCF-7	breast:
11	chr12:50419603..50421266-chr12:50430358..50432423,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000086159	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10082763	1.00[ASN][1000 genomes]
rs11169265	1.00[ASN][1000 genomes]
rs192704	1.00[EUR][1000 genomes]
rs1967110	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2307083	1.00[ASN][1000 genomes]
rs296751	1.00[EUR][1000 genomes]
rs296752	1.00[EUR][1000 genomes]
rs370774	1.00[EUR][1000 genomes]
rs3741561	1.00[ASN][1000 genomes]
rs438304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602772	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50419400-50426600	Weak transcription	Gastric	stomach
2	chr12:50419800-50421000	Weak transcription	A549	lung
3	chr12:50419800-50421200	Weak transcription	HepG2	liver
4	chr12:50419800-50421400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:50419800-50426400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:50420000-50421000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:50420000-50424000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:50420000-50426000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:50420000-50426200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:50420200-50426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:50420200-50426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:50420200-50426400	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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