Variant report

Variant	rs2104414
Chromosome Location	chr1:67369379-67369380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11208970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11208975	0.91[AMR][1000 genomes]
rs12061039	0.91[AMR][1000 genomes]
rs12069845	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12083687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090768	0.91[AMR][1000 genomes]
rs12091598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528178	0.91[AMR][1000 genomes]
rs9660023	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871738	chr1:67268642-67375206	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv871259	chr1:67275027-67375206	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3448405	chr1:67360980-67393830	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
3	chr1:67350000-67369400	Weak transcription	Fetal Kidney	kidney
4	chr1:67352200-67372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:67352800-67385600	Weak transcription	Ovary	ovary
6	chr1:67355800-67369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:67364000-67382000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:67364000-67385800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:67364000-67389000	Weak transcription	Osteobl	bone
11	chr1:67364600-67372000	Weak transcription	Left Ventricle	heart
12	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
13	chr1:67365000-67383200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:67365400-67369600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:67367200-67369400	Weak transcription	Primary T cells from cord blood	blood
17	chr1:67367600-67374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:67367800-67385400	Weak transcription	Fetal Stomach	stomach
19	chr1:67369200-67371200	Weak transcription	Rectal Mucosa Donor 29	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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