Variant report

Variant	rs12133955
Chromosome Location	chr1:193385416-193385417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10921331	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12116651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117877	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap]
rs12130838	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135148	1.00[CEU][hapmap]
rs12137353	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140787	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17528639	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17529089	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap]
rs6685991	1.00[AFR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes]
rs72740276	1.00[AFR][1000 genomes]
rs72740302	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742104	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72742110	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742114	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742119	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742120	0.90[AMR][1000 genomes];1.00[EUR][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	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193378400-193385800	Weak transcription	Ovary	ovary
2	chr1:193378400-193387200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:193382000-193386600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:193382000-193386600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:193382200-193385800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:193382200-193385800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:193382200-193386000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:193382200-193386600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:193382200-193387200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:193382400-193385800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:193382400-193386200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:193383600-193386200	Enhancers	Fetal Lung	lung
13	chr1:193383800-193385800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:193384200-193388000	Enhancers	Fetal Heart	heart
15	chr1:193384400-193385600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:193384400-193387200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:193384800-193386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:193384800-193386600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:193384800-193386600	Weak transcription	Right Atrium	heart
20	chr1:193384800-193387200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:193385000-193386000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:193385200-193385800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:193385400-193385800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:193385400-193386000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:193385400-193386000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:193385400-193386000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:193385400-193386000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:193385400-193386400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:193385400-193387000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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