Variant report

Variant	rs2985809
Chromosome Location	chr1:67372726-67372727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1074265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208977	0.91[ASN][1000 genomes]
rs11208980	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208987	0.91[ASN][1000 genomes]
rs11208988	0.91[ASN][1000 genomes]
rs11208989	0.91[ASN][1000 genomes]
rs11208990	0.91[ASN][1000 genomes]
rs11208993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11810931	0.88[CEU][hapmap]
rs11810986	0.88[CEU][hapmap]
rs12059957	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12060891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12061148	0.91[ASN][1000 genomes]
rs12073258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12074407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12078209	0.87[ASN][1000 genomes]
rs12079643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12082330	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12082503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12090955	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12091194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17097312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17129533	0.88[CEU][hapmap]
rs17129539	0.88[CEU][hapmap]
rs17129572	0.86[CEU][hapmap]
rs17129589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17129592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17129595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17129627	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1983860	0.88[CEU][hapmap]
rs2985796	0.88[CEU][hapmap]
rs3008891	0.88[CEU][hapmap]
rs3924795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3924796	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41356950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4553158	1.00[CHB][hapmap]
rs57476475	0.91[ASN][1000 genomes]
rs58083543	0.91[ASN][1000 genomes]
rs58465390	0.91[ASN][1000 genomes]
rs6588226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6588231	0.91[ASN][1000 genomes]
rs6588232	0.91[ASN][1000 genomes]
rs6588234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6681625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6698599	0.91[ASN][1000 genomes]
rs7517647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7524757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7528485	1.00[CEU][hapmap]
rs7537490	0.87[ASN][1000 genomes]
rs7551021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][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:13 , 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	chr1:67352800-67385600	Weak transcription	Ovary	ovary
4	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:67364000-67382000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:67364000-67385800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:67364000-67389000	Weak transcription	Osteobl	bone
8	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
9	chr1:67365000-67383200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:67367600-67374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:67367800-67385400	Weak transcription	Fetal Stomach	stomach
13	chr1:67369600-67385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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