Variant report

Variant	rs73170593
Chromosome Location	chr22:34189765-34189766
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	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1005680	1.00[ASN][1000 genomes]
rs10483174	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703305	1.00[ASN][1000 genomes]
rs11704212	1.00[ASN][1000 genomes]
rs11705063	1.00[ASN][1000 genomes]
rs11912301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912405	1.00[ASN][1000 genomes]
rs11913748	0.84[EUR][1000 genomes]
rs11913804	1.00[ASN][1000 genomes]
rs11914012	1.00[ASN][1000 genomes]
rs130523	1.00[ASN][1000 genomes]
rs13055480	1.00[ASN][1000 genomes]
rs16993078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16993089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747599	1.00[ASN][1000 genomes]
rs2413206	1.00[ASN][1000 genomes]
rs2413208	1.00[ASN][1000 genomes]
rs34060203	1.00[ASN][1000 genomes]
rs34290110	1.00[ASN][1000 genomes]
rs34375307	1.00[ASN][1000 genomes]
rs34455747	1.00[ASN][1000 genomes]
rs34597805	1.00[ASN][1000 genomes]
rs34871405	1.00[ASN][1000 genomes]
rs35838699	1.00[ASN][1000 genomes]
rs36006309	1.00[ASN][1000 genomes]
rs55819147	1.00[ASN][1000 genomes]
rs55963330	1.00[ASN][1000 genomes]
rs57416378	0.84[EUR][1000 genomes]
rs5749698	1.00[ASN][1000 genomes]
rs5754739	1.00[ASN][1000 genomes]
rs5754746	1.00[ASN][1000 genomes]
rs58634529	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999089	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61150953	0.84[EUR][1000 genomes]
rs67258059	1.00[ASN][1000 genomes]
rs73154536	1.00[ASN][1000 genomes]
rs73154574	1.00[ASN][1000 genomes]
rs73170561	0.84[EUR][1000 genomes]
rs73170570	0.84[EUR][1000 genomes]
rs73170572	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171909	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171910	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171912	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171913	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171915	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171921	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171926	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171927	1.00[ASN][1000 genomes]
rs73171931	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738987	1.00[ASN][1000 genomes]
rs738989	1.00[ASN][1000 genomes]
rs933215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2758542	chr22:34169795-34203479	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2758833	chr22:34169795-34203479	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34177000-34204600	Weak transcription	Gastric	stomach
2	chr22:34186000-34202400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:34187800-34204400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:34188000-34191000	Enhancers	Left Ventricle	heart
5	chr22:34188200-34190200	Enhancers	Right Atrium	heart
6	chr22:34188400-34190200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:34188400-34190400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:34188600-34189800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:34188600-34190600	Enhancers	Fetal Stomach	stomach
10	chr22:34188600-34191200	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:34188800-34189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:34188800-34190400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:34188800-34196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:34189000-34189800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr22:34189000-34189800	Enhancers	Fetal Kidney	kidney
16	chr22:34189000-34190200	Weak transcription	Psoas Muscle	Psoas
17	chr22:34189000-34190400	Enhancers	Brain Anterior Caudate	brain
18	chr22:34189000-34190600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr22:34189200-34190200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:34189200-34190200	Enhancers	GM12878-XiMat	blood
21	chr22:34189200-34190400	Enhancers	Fetal Muscle Leg	muscle
22	chr22:34189200-34190600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:34189200-34192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:34189400-34189800	Enhancers	Ovary	ovary
25	chr22:34189400-34190000	Weak transcription	Right Ventricle	heart
26	chr22:34189400-34190200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:34189400-34190200	Enhancers	Brain Hippocampus Middle	brain
28	chr22:34189400-34190400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:34189400-34190400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr22:34189400-34199600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:34189600-34190000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:34189600-34190200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:34189600-34190200	Enhancers	NHDF-Ad	bronchial
34	chr22:34189600-34190400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr22:34189600-34190400	Enhancers	Stomach Smooth Muscle	stomach
36	chr22:34189600-34191400	Enhancers	Fetal Heart	heart

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