Variant report

Variant	rs56395556
Chromosome Location	chr1:171182744-171182745
allele	A/G
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:
2	chr1:171180730..171183096-chr4:189101938..189104230,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10912559	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064360	1.00[AMR][1000 genomes]
rs12098211	1.00[AMR][1000 genomes]
rs28369797	1.00[EUR][1000 genomes]
rs28369800	1.00[EUR][1000 genomes]
rs28369899	1.00[EUR][1000 genomes]
rs28369907	1.00[EUR][1000 genomes]
rs28369908	1.00[EUR][1000 genomes]
rs28369911	1.00[EUR][1000 genomes]
rs61098520	1.00[EUR][1000 genomes]
rs6661174	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6664553	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6671692	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6672456	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6701702	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73032531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122248	1.00[EUR][1000 genomes]
rs74122251	1.00[EUR][1000 genomes]
rs74122253	1.00[EUR][1000 genomes]
rs74122277	1.00[EUR][1000 genomes]
rs74122278	1.00[EUR][1000 genomes]
rs74122279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122288	1.00[EUR][1000 genomes]
rs74122291	1.00[EUR][1000 genomes]
rs74122299	1.00[EUR][1000 genomes]
rs74122301	1.00[EUR][1000 genomes]
rs74122302	1.00[EUR][1000 genomes]
rs7517460	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7536646	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7536745	0.86[AFR][1000 genomes];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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171166000-171184000	Weak transcription	Gastric	stomach
2	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
4	chr1:171177800-171183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:171178000-171183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:171178200-171187200	Weak transcription	Aorta	Aorta
7	chr1:171178600-171182800	Weak transcription	Left Ventricle	heart
8	chr1:171179600-171183000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:171179800-171183400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:171179800-171187600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:171179800-171187800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171180600-171187000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:171181000-171187800	Weak transcription	Fetal Lung	lung
14	chr1:171181200-171183200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:171181400-171183200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:171181600-171183200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:171181800-171183000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:171181800-171183200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:171182000-171182800	Enhancers	Brain Hippocampus Middle	brain
20	chr1:171182000-171183000	Enhancers	Adipose Nuclei	Adipose
21	chr1:171182200-171182800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:171182200-171182800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:171182200-171183000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:171182200-171183200	Active TSS	Liver	Liver
25	chr1:171182200-171183400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:171182400-171182800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr1:171182600-171182800	Enhancers	Spleen	Spleen
28	chr1:171182600-171183000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:171182600-171183000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:171182600-171183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:171182600-171183200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:171182600-171183400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:171182600-171183600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:171182600-171183600	Enhancers	H9 Cell Line	embryonic stem cell

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