Variant report

Variant	rs4411178
Chromosome Location	chr1:170384807-170384808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157476	0.89[AFR][1000 genomes]
rs10733056	0.82[YRI][hapmap]
rs10753810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753811	0.94[AFR][1000 genomes]
rs10753815	0.81[YRI][hapmap]
rs10919393	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333133	0.81[YRI][hapmap]
rs1333146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333152	0.89[AFR][1000 genomes]
rs1333153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412894	0.89[AFR][1000 genomes]
rs1537395	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1537397	0.81[YRI][hapmap]
rs1572026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1572027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1831756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1930633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1930634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2104918	0.81[AFR][1000 genomes]
rs2150029	0.81[YRI][hapmap]
rs2151333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2225322	0.80[YRI][hapmap]
rs3936919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4319388	0.84[AFR][1000 genomes]
rs4436439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4469769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656769	0.81[AFR][1000 genomes]
rs4656771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656779	0.81[YRI][hapmap]
rs6427255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667867	0.81[AFR][1000 genomes]
rs6670882	0.81[AFR][1000 genomes]
rs6698637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531125	0.81[YRI][hapmap]
rs9651042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv514018	chr1:170367664-170386144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:170381200-170389200	Weak transcription	Fetal Stomach	stomach
3	chr1:170383400-170385400	Enhancers	NHLF	lung
4	chr1:170383400-170385800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:170383800-170385600	Enhancers	NHDF-Ad	bronchial
6	chr1:170383800-170385600	Enhancers	Osteobl	bone
7	chr1:170383800-170385800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:170384000-170385400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:170384000-170385400	Enhancers	Adipose Nuclei	Adipose
10	chr1:170384200-170385400	Enhancers	Fetal Lung	lung
11	chr1:170384600-170385400	Enhancers	Ovary	ovary
12	chr1:170384800-170385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:170384800-170393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:170384800-170395800	Weak transcription	Fetal Heart	heart

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