Variant report

Variant	rs28369914
Chromosome Location	chr1:171178490-171178491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171177619..171179300-chr1:171182219..171184780,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10912616	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12065544	0.91[ASN][1000 genomes]
rs12402732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12403890	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12720462	0.85[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16864174	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864177	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864216	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987921	0.94[ASN][1000 genomes]
rs1987944	0.94[ASN][1000 genomes]
rs2020863	0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049920	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064077	0.93[ASN][1000 genomes]
rs2072755	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075988	0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179106	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28369845	0.94[EUR][1000 genomes]
rs28369881	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28369891	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861947	0.91[ASN][1000 genomes]
rs4073692	0.83[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs4073693	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs4622096	0.80[ASN][1000 genomes]
rs4631734	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56370691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57305992	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815361	0.88[EUR][1000 genomes]
rs61815363	0.94[ASN][1000 genomes]
rs61815421	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815423	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815424	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815425	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815427	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72714167	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7533889	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs7535210	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7551934	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1817255	chr1:171170733-171185865	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171156600-171179600	Weak transcription	NHLF	lung
2	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
3	chr1:171166000-171184000	Weak transcription	Gastric	stomach
4	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
6	chr1:171171400-171179400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:171172200-171178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:171173600-171179000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:171174200-171178600	Strong transcription	Left Ventricle	heart
10	chr1:171175600-171179000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:171176800-171178600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:171176800-171179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:171177200-171178600	Weak transcription	Liver	Liver
14	chr1:171177200-171178800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:171177400-171178800	Weak transcription	Stomach Mucosa	stomach
16	chr1:171177400-171179000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:171177400-171179400	Weak transcription	Fetal Lung	lung
18	chr1:171177800-171178600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:171177800-171183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:171178000-171183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:171178200-171178600	Weak transcription	Psoas Muscle	Psoas
22	chr1:171178200-171178800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:171178200-171179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:171178200-171180800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:171178200-171182600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:171178200-171187200	Weak transcription	Aorta	Aorta
27	chr1:171178400-171178600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:171178400-171179400	Enhancers	HUES6 Cell Line	embryonic stem cell

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