Variant report

Variant	rs192519
Chromosome Location	chr1:91854389-91854390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:91852844..91854413-chr20:26190011..26191977,2	MCF-7	breast:
2	chr1:91851628..91854418-chrX:125715189..125716759,2	K562	blood:
3	chr1:91853077..91854647-chr2:133009089..133010727,2	K562	blood:
4	chr1:91851287..91854645-chr21:9825095..9828547,9	K562	blood:
5	chr1:91852831..91854638-chrX:108297678..108299309,5	MCF-7	breast:
6	chr1:91851307..91854415-chr20:26188724..26191391,3	K562	blood:
7	chr1:91851478..91854506-chr2:230045518..230047103,3	K562	blood:
8	chr1:91851458..91854565-chrX:108296200..108299331,8	MCF-7	breast:
9	chr1:91851562..91854585-chr11:85195040..85196753,3	K562	blood:
10	chr1:91851287..91854647-chr21:9824128..9829020,13	K562	blood:
11	chr1:91851583..91854616-chr2:133036036..133038051,4	MCF-7	breast:
12	chr1:91852845..91854449-chr1:156186430..156188124,2	K562	blood:
13	chr1:91851309..91854564-chr12:127649174..127652461,7	K562	blood:
14	chr1:91852900..91854571-chr16:33961585..33963370,2	K562	blood:
15	chr1:91852932..91854571-chr8:70600885..70602601,4	MCF-7	breast:
16	chr1:91852809..91854459-chr16:33965483..33967067,2	K562	blood:
17	chr1:91852916..91854571-chr2:133011071..133013655,2	K562	blood:
18	chr1:91851368..91854628-chrX:108296235..108299327,13	K562	blood:
19	chr1:91851293..91854462-chr17:31147939..31151304,9	MCF-7	breast:
20	chr1:91851369..91854496-chr9:79185187..79188372,7	K562	blood:
21	chr1:91851467..91854421-chr17:31148067..31151022,2	K562	blood:
22	chr1:91853063..91854565-chr12:20702914..20704451,2	K562	blood:
23	chr1:91851338..91854493-chr9:79185187..79188153,5	K562	blood:
24	chr1:91851376..91854431-chr1:156185021..156188044,3	MCF-7	breast:
25	chr1:91852976..91854587-chr9:74453335..74454855,2	MCF-7	breast:
26	chr1:91851338..91854437-chr12:34371148..34374164,6	K562	blood:
27	chr1:91851415..91854599-chrX:108296235..108299271,9	K562	blood:
28	chr1:91852926..91854438-chr8:70600987..70602599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226958	Chromatin interaction
ENSG00000227195	Chromatin interaction
ENSG00000264063	Chromatin interaction
ENSG00000239776	Chromatin interaction
ENSG00000255652	Chromatin interaction
ENSG00000241781	Chromatin interaction
ENSG00000256642	Chromatin interaction
ENSG00000264462	Chromatin interaction
ENSG00000207986	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493845	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs10801862	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs10923006	0.82[JPT][hapmap]
rs10923010	0.92[JPT][hapmap]
rs1158436	0.92[JPT][hapmap]
rs12564233	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12566743	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12568445	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12568483	0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap]
rs1583817	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs1583818	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap]
rs169472	0.90[ASN][1000 genomes]
rs17131417	0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17131419	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs182218	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281935	0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap]
rs281959	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs281966	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs281968	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs281977	0.80[ASN][1000 genomes]
rs281979	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs281990	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs281992	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs281996	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs281997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs281998	0.92[JPT][hapmap]
rs282014	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs282020	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs282050	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs282057	0.85[YRI][hapmap]
rs382467	0.82[ASN][1000 genomes]
rs4084488	0.84[ASN][1000 genomes]
rs4509624	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4658217	0.90[ASN][1000 genomes]
rs4658219	0.83[ASN][1000 genomes]
rs4658220	0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4658221	0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4658222	0.92[JPT][hapmap]
rs58424833	0.81[ASN][1000 genomes]
rs59078007	0.86[ASN][1000 genomes]
rs681589	0.89[CHD][hapmap];0.92[JPT][hapmap]
rs72970335	0.81[ASN][1000 genomes]
rs72970337	0.81[ASN][1000 genomes]
rs7417055	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap]
rs876761	0.89[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap]
rs9324372	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs988203	0.89[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs192519	HFM1	cis	Artery Aorta	GTEx
rs192519	HFM1	cis	Artery Tibial	GTEx
rs192519	HFM1	cis	Nerve Tibial	GTEx
rs192519	HFM1	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91853200-91855600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:91853200-91856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:91853200-91857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:91853200-91857600	Weak transcription	Ovary	ovary
5	chr1:91853200-91859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:91853200-91866800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:91853200-91869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:91853200-91869200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:91853200-91869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:91853200-91869600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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