Variant report

Variant	rs28369911
Chromosome Location	chr1:171177858-171177859
allele	G/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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10912559	1.00[EUR][1000 genomes]
rs28369797	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369800	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369869	1.00[AFR][1000 genomes]
rs28369880	1.00[AFR][1000 genomes]
rs28369899	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369907	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369908	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28384824	0.94[AFR][1000 genomes]
rs56395556	1.00[EUR][1000 genomes]
rs61098520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6661174	1.00[EUR][1000 genomes]
rs6664553	1.00[EUR][1000 genomes]
rs6671692	1.00[EUR][1000 genomes]
rs6672456	1.00[EUR][1000 genomes]
rs6701702	1.00[EUR][1000 genomes]
rs73032532	1.00[EUR][1000 genomes]
rs74122248	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122251	1.00[EUR][1000 genomes]
rs74122253	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122277	1.00[EUR][1000 genomes]
rs74122278	1.00[EUR][1000 genomes]
rs74122279	1.00[EUR][1000 genomes]
rs74122288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122299	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122301	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74122302	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7517460	1.00[EUR][1000 genomes]
rs7536646	1.00[EUR][1000 genomes]
rs7536745	1.00[EUR][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:24 , 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	chr1:171166000-171178000	Weak transcription	Psoas Muscle	Psoas
4	chr1:171166000-171184000	Weak transcription	Gastric	stomach
5	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
7	chr1:171171400-171179400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:171172200-171178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:171173600-171179000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:171174200-171178600	Strong transcription	Left Ventricle	heart
11	chr1:171174600-171178200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:171174600-171178200	Strong transcription	Aorta	Aorta
13	chr1:171175600-171179000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:171176800-171178600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:171176800-171179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:171177200-171178600	Weak transcription	Liver	Liver
17	chr1:171177200-171178800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:171177400-171178800	Weak transcription	Stomach Mucosa	stomach
19	chr1:171177400-171179000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:171177400-171179400	Weak transcription	Fetal Lung	lung
21	chr1:171177600-171178200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:171177800-171178000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:171177800-171178600	Weak transcription	Adipose Nuclei	Adipose
24	chr1:171177800-171183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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