Variant report

Variant	rs16846744
Chromosome Location	chr1:174154145-174154146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16846660	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs16846662	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16846669	0.92[YRI][hapmap]
rs16846681	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846728	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846747	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846840	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2095986	0.92[AFR][1000 genomes]
rs41266044	0.85[AFR][1000 genomes]
rs41511350	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs4518972	0.90[AFR][1000 genomes]
rs58024885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60141888	0.92[AFR][1000 genomes]
rs60839216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635459	0.88[AFR][1000 genomes]
rs6687429	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7339904	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7550085	0.88[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv946458	chr1:174149182-174160829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174164800	Weak transcription	Gastric	stomach
2	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
3	chr1:174130000-174157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:174130800-174156600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:174134800-174159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:174136400-174160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174137800-174155600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:174138400-174160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:174139000-174159800	Weak transcription	Right Atrium	heart
10	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
11	chr1:174144200-174158000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:174145800-174157600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:174148800-174159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:174151800-174159600	Weak transcription	K562	blood
15	chr1:174153000-174155400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:174153800-174154200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:174153800-174154200	Enhancers	Fetal Heart	heart
18	chr1:174154000-174154200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:174154000-174154400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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