Variant report

Variant	rs72827139
Chromosome Location	chr17:37735469-37735470
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37733957..37736363-chr17:37758131..37760947,2	K562	blood:
2	chr17:37728576..37732593-chr17:37732827..37737352,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16965088	1.00[AFR][1000 genomes]
rs34458385	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35270682	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35442489	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36172452	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887260	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4412996	1.00[AFR][1000 genomes]
rs4611492	1.00[AFR][1000 genomes]
rs55976670	0.87[ASN][1000 genomes]
rs56102014	1.00[AFR][1000 genomes]
rs56143149	1.00[AFR][1000 genomes]
rs56277614	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56301513	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57009492	0.87[ASN][1000 genomes]
rs60403655	0.87[ASN][1000 genomes]
rs67466585	0.87[ASN][1000 genomes]
rs67966109	0.87[ASN][1000 genomes]
rs72825164	1.00[AFR][1000 genomes]
rs72825178	1.00[AFR][1000 genomes]
rs72825188	1.00[AFR][1000 genomes]
rs72825189	1.00[AFR][1000 genomes]
rs72825194	1.00[AFR][1000 genomes]
rs72827103	1.00[AFR][1000 genomes]
rs72827106	1.00[AFR][1000 genomes]
rs72827114	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72827126	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72827138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827159	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72827162	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8081144	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37721400-37736200	Weak transcription	Fetal Heart	heart
2	chr17:37730600-37741400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:37730600-37741600	Weak transcription	Right Atrium	heart
4	chr17:37730600-37748000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:37730800-37738600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37734200-37736000	Enhancers	Liver	Liver
7	chr17:37734200-37736200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:37734200-37736400	Enhancers	Fetal Brain Female	brain
9	chr17:37734200-37736800	Enhancers	Fetal Lung	lung
10	chr17:37734200-37737000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:37734200-37737200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:37734400-37735600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr17:37734600-37735600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr17:37734600-37735800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:37734600-37736400	Enhancers	Fetal Brain Male	brain
16	chr17:37734600-37736600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:37734600-37737200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr17:37734800-37735600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr17:37734800-37735600	Enhancers	Left Ventricle	heart
20	chr17:37734800-37735600	Enhancers	Lung	lung
21	chr17:37734800-37735600	Enhancers	Pancreas	Pancrea
22	chr17:37734800-37735800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr17:37734800-37736400	Enhancers	Brain Germinal Matrix	brain
24	chr17:37734800-37737000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:37734800-37737800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:37735000-37735800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr17:37735000-37736200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:37735000-37737000	Enhancers	Fetal Stomach	stomach
29	chr17:37735200-37735600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:37735200-37735600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr17:37735200-37735800	Enhancers	Adipose Nuclei	Adipose
32	chr17:37735200-37736400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr17:37735200-37736600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr17:37735200-37736800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr17:37735200-37737000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr17:37735400-37735600	Enhancers	Brain Hippocampus Middle	brain
37	chr17:37735400-37735600	Enhancers	Spleen	Spleen
38	chr17:37735400-37736000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:37735400-37736400	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:37735400-37736600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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