Variant report

Variant	rs1967114
Chromosome Location	chr1:212375336-212375337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212373334..212376163-chr1:212376843..212378983,2	K562	blood:
2	chr1:212374422..212376046-chr1:212392215..212393758,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10779575	0.84[ASN][1000 genomes]
rs10863953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863954	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119883	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119884	0.87[EUR][1000 genomes]
rs11119885	0.86[EUR][1000 genomes]
rs12028026	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029444	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12073206	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12402397	0.87[EUR][1000 genomes]
rs1389369	0.86[EUR][1000 genomes]
rs1389370	0.87[EUR][1000 genomes]
rs1472226	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs2012917	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2087946	0.85[EUR][1000 genomes]
rs2884512	0.82[EUR][1000 genomes]
rs35209719	0.87[EUR][1000 genomes]
rs3816912	0.88[EUR][1000 genomes]
rs4362041	0.87[EUR][1000 genomes]
rs4500383	0.89[EUR][1000 genomes]
rs4558048	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951581	0.86[EUR][1000 genomes]
rs6540729	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6540731	0.81[MKK][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs6540732	0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs6540733	0.88[EUR][1000 genomes]
rs6540734	0.87[EUR][1000 genomes]
rs6540735	0.87[EUR][1000 genomes]
rs6657900	0.86[EUR][1000 genomes]
rs6695681	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7511781	0.86[EUR][1000 genomes]
rs7515645	0.88[EUR][1000 genomes]
rs7518329	0.85[EUR][1000 genomes]
rs7530375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7537062	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7552021	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs867584	0.81[EUR][1000 genomes]
rs903120	0.85[EUR][1000 genomes]
rs903121	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs951623	0.88[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1967114	TMEM206	cis	Esophagus Mucosa	GTEx
rs1967114	TMEM206	cis	cerebellum	SCAN
rs1967114	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs1967114	LGTN	cis	cerebellum	SCAN
rs1967114	RCOR3	cis	parietal	SCAN
rs1967114	SYT14	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212368800-212391000	Weak transcription	Thymus	Thymus
2	chr1:212369000-212376000	Weak transcription	Lung	lung
3	chr1:212370000-212375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:212370800-212376000	Weak transcription	Fetal Thymus	thymus
5	chr1:212371200-212376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212374600-212376200	Enhancers	HUVEC	blood vessel
7	chr1:212374800-212376000	Weak transcription	Fetal Lung	lung
8	chr1:212375000-212375400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr1:212375000-212375400	Enhancers	Hela-S3	cervix
10	chr1:212375000-212376200	Enhancers	Primary T cells from cord blood	blood
11	chr1:212375200-212375400	Enhancers	NHEK	skin
12	chr1:212375200-212376400	Enhancers	Stomach Mucosa	stomach
13	chr1:212375200-212379600	Enhancers	Placenta	Placenta

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