Variant report

Variant	rs73343243
Chromosome Location	chr20:25674712-25674713
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	chr20:25673244..25674804-chr20:25675051..25677255,2	K562	blood:
2	chr20:25603480..25606369-chr20:25672275..25675110,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs28417591	0.93[AFR][1000 genomes]
rs57150489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57870458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57982209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59631229	1.00[EUR][1000 genomes]
rs6037213	1.00[EUR][1000 genomes]
rs6050738	1.00[EUR][1000 genomes]
rs61146844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115245	1.00[EUR][1000 genomes]
rs61598299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6515689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7267586	1.00[AMR][1000 genomes]
rs7273366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337380	0.86[AFR][1000 genomes]
rs73337391	0.86[AFR][1000 genomes]
rs73339340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339381	1.00[AMR][1000 genomes]
rs73341321	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341334	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343258	1.00[EUR][1000 genomes]
rs73343264	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345241	1.00[EUR][1000 genomes]
rs73345246	1.00[EUR][1000 genomes]
rs73345256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8118159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8125097	1.00[EUR][1000 genomes]
rs8125218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917456	1.00[AMR][1000 genomes]
rs9917460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1056288	chr20:25662941-25744711	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1057618	chr20:25665455-25744711	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25657400-25676200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:25657600-25676000	Weak transcription	Stomach Mucosa	stomach
3	chr20:25657600-25676200	Weak transcription	Hela-S3	cervix
4	chr20:25657600-25676200	Weak transcription	K562	blood
5	chr20:25657600-25676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr20:25657800-25676000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:25657800-25676200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr20:25657800-25676200	Weak transcription	Colonic Mucosa	Colon
9	chr20:25657800-25676200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr20:25658200-25676200	Weak transcription	Fetal Kidney	kidney
11	chr20:25658400-25676200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:25658800-25676200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:25659000-25676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr20:25660600-25676000	Weak transcription	HUVEC	blood vessel
15	chr20:25662400-25676000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr20:25663800-25676000	Weak transcription	HMEC	breast
17	chr20:25664000-25675600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:25664000-25676000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:25664000-25676000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr20:25664200-25675200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr20:25664200-25676000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:25666400-25676000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:25666400-25676400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:25666800-25676000	Weak transcription	Brain Substantia Nigra	brain
25	chr20:25666800-25676200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:25666800-25676400	Weak transcription	Ovary	ovary
27	chr20:25667000-25675200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr20:25667000-25675400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr20:25667000-25676000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr20:25667000-25676000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:25667000-25676000	Weak transcription	Spleen	Spleen
32	chr20:25667000-25676000	Weak transcription	NHEK	skin
33	chr20:25667000-25676200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr20:25667000-25676200	Weak transcription	Liver	Liver
35	chr20:25667000-25676200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr20:25667200-25675400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr20:25667200-25675400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr20:25667200-25675400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr20:25667200-25675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr20:25667200-25676000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr20:25667200-25676000	Weak transcription	Colon Smooth Muscle	Colon
42	chr20:25667200-25676000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr20:25667200-25676000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr20:25667200-25676200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr20:25667200-25676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:25667200-25676200	Weak transcription	Right Ventricle	heart
47	chr20:25667400-25675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:25667400-25676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:25667400-25676000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr20:25667400-25676000	Weak transcription	Brain Anterior Caudate	brain

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