Variant report

Variant	rs10843346
Chromosome Location	chr12:29373899-29373900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:29373722-29374084	K562	blood:	n/a	n/a
2	POLR2A	chr12:29373716-29374067	HCT-116	colon:	n/a	n/a
3	MYC	chr12:29373585-29373939	K562	blood:	n/a	n/a
4	POLR2A	chr12:29373807-29374027	K562	blood:	n/a	n/a
5	TBP	chr12:29373867-29374067	K562	blood:	n/a	n/a
6	MAZ	chr12:29373749-29374086	K562	blood:	n/a	n/a
7	RCOR1	chr12:29373867-29374212	K562	blood:	n/a	n/a
8	POLR2A	chr12:29373684-29374075	HCT-116	colon:	n/a	n/a
9	HEY1	chr12:29373739-29373979	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29372362..29374928-chr12:29492588..29495532,2	K562	blood:
2	chr12:29366444..29369695-chr12:29370735..29374164,3	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10843345	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843347	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843353	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4931168	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957101	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7972040	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29370600-29376000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:29370600-29376400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29370600-29376800	Weak transcription	NHDF-Ad	bronchial
8	chr12:29370800-29374000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:29370800-29376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:29371000-29376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:29373000-29375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:29373200-29377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:29373400-29374200	Active TSS	K562	blood
14	chr12:29373600-29374000	Active TSS	Placenta	Placenta
15	chr12:29373600-29374400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr12:29373600-29375800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:29373800-29374200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:29373800-29374400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:29373800-29374400	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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