Variant report

Variant	rs73335323
Chromosome Location	chr20:25465010-25465011
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	chr20:25464881..25466399-chr20:25468189..25469773,2	MCF-7	breast:
2	chr20:25464605..25465563-chr20:25554811..25555726,5	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs28417591	1.00[AMR][1000 genomes]
rs28551104	1.00[AMR][1000 genomes]
rs56795563	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57237389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57522322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58189090	1.00[AMR][1000 genomes]
rs58410604	1.00[AMR][1000 genomes]
rs58593226	1.00[AMR][1000 genomes]
rs58709664	1.00[AMR][1000 genomes]
rs58722006	1.00[AMR][1000 genomes]
rs58953621	1.00[AMR][1000 genomes]
rs59362331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59431257	1.00[AMR][1000 genomes]
rs59826126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59857017	1.00[AMR][1000 genomes]
rs60459445	1.00[AMR][1000 genomes]
rs60758360	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60772859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60831246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60834749	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60893899	1.00[AMR][1000 genomes]
rs7264066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7267807	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7270324	1.00[AMR][1000 genomes]
rs7274585	1.00[AMR][1000 genomes]
rs7274976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331819	1.00[AMR][1000 genomes]
rs73331822	1.00[AMR][1000 genomes]
rs73331824	1.00[AMR][1000 genomes]
rs73331833	1.00[AMR][1000 genomes]
rs73331834	1.00[AMR][1000 genomes]
rs73331856	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331880	1.00[AMR][1000 genomes]
rs73331881	1.00[AMR][1000 genomes]
rs73333506	1.00[AMR][1000 genomes]
rs73333515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333541	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333553	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333590	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335304	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335366	1.00[AMR][1000 genomes]
rs73335383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337360	1.00[AMR][1000 genomes]
rs73337362	1.00[AMR][1000 genomes]
rs73337380	0.86[AFR][1000 genomes]
rs73337391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343058	1.00[AMR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes]
rs73343090	1.00[AMR][1000 genomes]
rs73343097	1.00[AMR][1000 genomes]
rs73345003	1.00[AMR][1000 genomes]
rs73345011	1.00[AMR][1000 genomes]
rs73345016	1.00[AMR][1000 genomes]
rs73345021	1.00[AMR][1000 genomes]
rs73345030	1.00[AMR][1000 genomes]
rs73345040	1.00[AMR][1000 genomes]
rs73345068	1.00[AMR][1000 genomes]
rs73345069	1.00[AMR][1000 genomes]
rs73345071	1.00[AMR][1000 genomes]
rs73345073	1.00[AMR][1000 genomes]
rs73345082	1.00[AMR][1000 genomes]
rs73345087	1.00[AMR][1000 genomes]
rs73345088	1.00[AMR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes]
rs73347023	1.00[AMR][1000 genomes]
rs73347042	1.00[AMR][1000 genomes]
rs73347058	1.00[AMR][1000 genomes]
rs73347066	1.00[AMR][1000 genomes]
rs8117413	1.00[AMR][1000 genomes]
rs8118017	1.00[AMR][1000 genomes]
rs8123947	1.00[AMR][1000 genomes]
rs9967947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
17	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25427200-25488200	Weak transcription	Stomach Mucosa	stomach
2	chr20:25430200-25484400	Strong transcription	Fetal Stomach	stomach
3	chr20:25431800-25484200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:25435800-25465600	Weak transcription	NH-A	brain
5	chr20:25436200-25465200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:25438600-25466200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:25438800-25472600	Strong transcription	HepG2	liver
8	chr20:25440600-25466600	Weak transcription	Left Ventricle	heart
9	chr20:25446000-25466600	Weak transcription	NHDF-Ad	bronchial
10	chr20:25446000-25489600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:25446400-25488200	Weak transcription	Right Atrium	heart
12	chr20:25447000-25477600	Strong transcription	Fetal Muscle Leg	muscle
13	chr20:25448200-25490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr20:25448600-25484200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:25448800-25480800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr20:25451200-25474000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr20:25451400-25468400	Weak transcription	Osteobl	bone
18	chr20:25451400-25488800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr20:25451600-25470000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr20:25451800-25468000	Weak transcription	HSMMtube	muscle
21	chr20:25453400-25494400	Strong transcription	Brain Germinal Matrix	brain
22	chr20:25453600-25467200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:25455200-25465200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr20:25456200-25466200	Strong transcription	Fetal Intestine Small	intestine
25	chr20:25456400-25470800	Strong transcription	Fetal Lung	lung
26	chr20:25456400-25472600	Strong transcription	Fetal Intestine Large	intestine
27	chr20:25456600-25469600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr20:25457000-25471600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr20:25457600-25474000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:25457800-25489000	Weak transcription	Placenta	Placenta
31	chr20:25459800-25489800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr20:25460200-25469600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:25461200-25468000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:25461400-25465200	Weak transcription	Fetal Kidney	kidney
35	chr20:25461600-25465600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr20:25461600-25466800	Weak transcription	Fetal Heart	heart
37	chr20:25461600-25468200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr20:25461800-25469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr20:25462600-25468600	Weak transcription	Brain Hippocampus Middle	brain
40	chr20:25462600-25469400	Weak transcription	NHLF	lung
41	chr20:25462600-25469600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:25462800-25466600	Weak transcription	Aorta	Aorta
43	chr20:25462800-25466600	Weak transcription	Ovary	ovary
44	chr20:25462800-25467200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr20:25462800-25467800	Weak transcription	Colon Smooth Muscle	Colon
46	chr20:25462800-25468000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr20:25462800-25468400	Weak transcription	Lung	lung
48	chr20:25462800-25468600	Weak transcription	Gastric	stomach
49	chr20:25462800-25468800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:25462800-25469600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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