Variant report

Variant	rs58172277
Chromosome Location	chr2:234268685-234268686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234262927..234266874-chr2:234267273..234270022,5	MCF-7	breast:
2	chr2:234268370..234271301-chr2:234272782..234274446,2	K562	blood:
3	chr2:234262086..234263728-chr2:234268107..234269688,2	MCF-7	breast:
4	chr2:234261747..234266752-chr2:234267799..234270221,5	K562	blood:
5	chr2:234268370..234271611-chr2:234272538..234274981,4	K562	blood:
6	chr2:234261499..234266840-chr2:234267799..234272402,9	K562	blood:

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10170001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422131	1.00[AMR][1000 genomes]
rs13426533	1.00[AMR][1000 genomes]
rs57845501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59148909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59937078	1.00[AMR][1000 genomes]
rs73110079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:234264400-234269000	Weak transcription	NHLF	lung
4	chr2:234264400-234269600	Weak transcription	Aorta	Aorta
5	chr2:234264400-234274800	Weak transcription	NHDF-Ad	bronchial
6	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234264600-234272400	Weak transcription	HUVEC	blood vessel
8	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:234264800-234269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:234264800-234269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:234264800-234271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:234264800-234272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
15	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:234265000-234272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
18	chr2:234265000-234295000	Weak transcription	Osteobl	bone
19	chr2:234265200-234269600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:234265200-234269800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:234265200-234269800	Weak transcription	Psoas Muscle	Psoas
22	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:234265200-234295000	Weak transcription	NH-A	brain
24	chr2:234265400-234281600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:234265600-234269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:234265800-234269200	Weak transcription	Fetal Heart	heart
27	chr2:234265800-234270200	Weak transcription	NHEK	skin
28	chr2:234265800-234272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:234265800-234272200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:234265800-234272200	Weak transcription	Fetal Lung	lung
31	chr2:234265800-234272400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:234265800-234272400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:234265800-234278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:234265800-234278200	Weak transcription	Brain Germinal Matrix	brain
35	chr2:234265800-234283800	Weak transcription	Colonic Mucosa	Colon
36	chr2:234265800-234289400	Weak transcription	Hela-S3	cervix
37	chr2:234265800-234293000	Weak transcription	HMEC	breast
38	chr2:234266000-234268800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:234266000-234269000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:234266000-234269000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:234266000-234269000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:234266000-234269000	Weak transcription	Right Ventricle	heart
43	chr2:234266000-234269600	Weak transcription	Ovary	ovary
44	chr2:234266000-234269800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:234266000-234269800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:234266000-234269800	Weak transcription	Stomach Mucosa	stomach
47	chr2:234266000-234272200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:234266000-234272200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:234266000-234272200	Weak transcription	Liver	Liver
50	chr2:234266000-234272200	Weak transcription	HSMM	muscle

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