Variant report

Variant	rs12117768
Chromosome Location	chr1:160659160-160659161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11265464	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265465	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265466	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265467	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265468	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265469	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580216	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584616	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11589131	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12143827	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569009	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730796	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34154650	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34219158	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35206837	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35474473	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766369	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59265097	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6702441	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793380	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793381	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793987	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv437213	chr1:160652730-160681836	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160654000-160662800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:160654200-160671000	Weak transcription	Small Intestine	intestine
3	chr1:160655200-160673600	Weak transcription	Spleen	Spleen
4	chr1:160655400-160661600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:160655600-160659400	Strong transcription	Fetal Thymus	thymus
6	chr1:160655800-160662200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:160655800-160662200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:160656000-160660400	Strong transcription	Primary B cells from cord blood	blood
9	chr1:160656200-160659400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:160656200-160672000	Weak transcription	Dnd41	blood
11	chr1:160656400-160659400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:160656400-160659400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:160656400-160659400	Weak transcription	Thymus	Thymus
14	chr1:160657400-160660200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:160657800-160659200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:160657800-160660400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:160657800-160664200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:160658000-160660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:160658200-160659400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:160658200-160659600	Strong transcription	GM12878-XiMat	blood
21	chr1:160658400-160659400	Weak transcription	Primary T cells from cord blood	blood
22	chr1:160658400-160659400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:160658600-160661400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:160658800-160659600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:160658800-160660600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:160658800-160661000	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr1:160659000-160659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:160659000-160661800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:160659000-160662200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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