Variant report

Variant	rs73914475
Chromosome Location	chr20:52654289-52654290
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52626505..52628533-chr20:52652801..52654568,2	MCF-7	breast:
2	chr20:52642833..52647245-chr20:52651317..52656592,5	MCF-7	breast:
3	chr19:11025812..11027987-chr20:52653374..52655752,2	MCF-7	breast:
4	chr17:57917278..57919596-chr20:52653625..52656516,2	MCF-7	breast:
5	chr20:52647368..52649299-chr20:52654193..52656329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199004	Chromatin interaction
ENSG00000064787	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16998533	1.00[AMR][1000 genomes]
rs55655714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55973940	1.00[AMR][1000 genomes]
rs6013858	1.00[ASN][1000 genomes]
rs6013859	1.00[ASN][1000 genomes]
rs6013860	1.00[ASN][1000 genomes]
rs6013862	1.00[ASN][1000 genomes]
rs6013863	1.00[ASN][1000 genomes]
rs6013864	1.00[ASN][1000 genomes]
rs6013865	1.00[ASN][1000 genomes]
rs6013866	1.00[ASN][1000 genomes]
rs6013867	1.00[ASN][1000 genomes]
rs6022892	1.00[ASN][1000 genomes]
rs6022893	1.00[ASN][1000 genomes]
rs6022894	1.00[ASN][1000 genomes]
rs6022895	1.00[ASN][1000 genomes]
rs6022896	1.00[ASN][1000 genomes]
rs6022899	1.00[ASN][1000 genomes]
rs6022903	1.00[ASN][1000 genomes]
rs6022905	1.00[ASN][1000 genomes]
rs6022906	1.00[ASN][1000 genomes]
rs6022907	1.00[ASN][1000 genomes]
rs6022908	1.00[ASN][1000 genomes]
rs6022909	1.00[ASN][1000 genomes]
rs6022910	1.00[ASN][1000 genomes]
rs6022911	1.00[ASN][1000 genomes]
rs6091815	1.00[AMR][1000 genomes]
rs6097705	1.00[ASN][1000 genomes]
rs6097744	1.00[AMR][1000 genomes]
rs6097746	1.00[AMR][1000 genomes]
rs61484939	1.00[AMR][1000 genomes]
rs7274783	1.00[ASN][1000 genomes]
rs740049	1.00[ASN][1000 genomes]
rs878868	1.00[ASN][1000 genomes]
rs881206	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	esv2763673	chr20:52637074-52668126	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv3419	chr20:52637581-52672115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	nsv1064465	chr20:52643155-52658639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv437187	chr20:52644514-52660120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv1058315	chr20:52644518-52658639	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv1064456	chr20:52644721-52658639	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv1055799	chr20:52644770-52657717	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv1059551	chr20:52644770-52658639	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv1067222	chr20:52644856-52658061	Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv1060500	chr20:52644856-52658639	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv1065821	chr20:52644856-52662562	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv586230	chr20:52645534-52654711	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv912939	chr20:52646029-52660741	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv912940	chr20:52646029-52663409	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	esv3513136	chr20:52646045-52659093	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	esv3513133	chr20:52646370-52658993	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	esv3513132	chr20:52646668-52658237	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
20	esv3454655	chr20:52646917-52658133	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
21	nsv586231	chr20:52646926-52654353	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
22	nsv586232	chr20:52646926-52654412	Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
23	nsv586233	chr20:52646926-52654547	Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	nsv586234	chr20:52646926-52654711	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv586235	chr20:52646926-52657797	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
26	nsv586236	chr20:52646926-52658001	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
27	nsv517164	chr20:52646926-52660741	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
28	nsv912941	chr20:52646926-52660741	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
29	nsv912942	chr20:52646926-52663409	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	esv3513138	chr20:52646952-52658112	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
31	esv3513135	chr20:52646964-52658088	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
32	esv3454654	chr20:52646970-52658079	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
33	esv3513139	chr20:52646987-52658036	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
34	esv3513137	chr20:52646999-52658057	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
35	esv3513134	chr20:52647007-52658053	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
36	esv3454656	chr20:52647065-52658009	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
37	esv3513141	chr20:52647065-52658009	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
38	esv13873	chr20:52647106-52658080	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
39	nsv514943	chr20:52647777-52656465	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
40	nsv1055315	chr20:52647808-52658061	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
41	nsv1064515	chr20:52647808-52658561	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
42	nsv1059526	chr20:52647808-52658639	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
43	esv2421391	chr20:52647808-52658651	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
44	nsv442485	chr20:52647808-52658651	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
45	nsv1059343	chr20:52647808-52662562	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
46	nsv1065004	chr20:52647808-52665631	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
47	esv2760671	chr20:52647808-52665643	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
48	nsv1055891	chr20:52647808-52666885	Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
49	nsv1067336	chr20:52647808-52668126	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
50	nsv1065888	chr20:52647808-52670378	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach
2	chr20:52644800-52666400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52645200-52682200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr20:52646000-52657000	Weak transcription	Gastric	stomach
5	chr20:52646000-52666600	Weak transcription	Rectal Mucosa Donor 31	rectum

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