Variant report

Variant	rs58098085
Chromosome Location	chr4:22494396-22494397
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	chr4:22488399..22490950-chr4:22493521..22495053,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11932316	1.00[AMR][1000 genomes]
rs56029242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56965161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61574687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61793366	0.90[AFR][1000 genomes]
rs61793367	0.90[AFR][1000 genomes]
rs6812519	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802816	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802817	1.00[AMR][1000 genomes]
rs73802819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802824	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802827	0.81[AFR][1000 genomes]
rs73802829	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802835	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666972	0.81[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22484800-22498400	Weak transcription	Gastric	stomach
2	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
3	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
4	chr4:22485600-22502000	Weak transcription	A549	lung
5	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:22488000-22494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
8	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:22488800-22496800	Weak transcription	HMEC	breast
10	chr4:22488800-22497800	Weak transcription	NHEK	skin
11	chr4:22488800-22503600	Weak transcription	NHLF	lung
12	chr4:22489400-22496800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:22489400-22496800	Weak transcription	Fetal Stomach	stomach
14	chr4:22489400-22500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:22489600-22503800	Weak transcription	HSMM	muscle
16	chr4:22490200-22494600	Weak transcription	Left Ventricle	heart
17	chr4:22490200-22500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:22490200-22501600	Weak transcription	Psoas Muscle	Psoas
19	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
20	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
21	chr4:22492000-22495000	Enhancers	HepG2	liver
22	chr4:22492200-22494600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:22492200-22494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:22492400-22494600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:22492400-22494600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:22492400-22495400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:22492400-22495400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:22492600-22495600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:22492600-22500800	Weak transcription	Fetal Heart	heart
30	chr4:22492800-22494600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:22492800-22495200	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:22492800-22497800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:22492800-22497800	Weak transcription	Pancreas	Pancrea
34	chr4:22492800-22501400	Weak transcription	Liver	Liver
35	chr4:22492800-22506000	Weak transcription	Lung	lung
36	chr4:22493000-22495000	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:22493200-22494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:22493800-22494600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:22493800-22498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:22493800-22501000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:22493800-22501400	Weak transcription	Fetal Intestine Small	intestine
43	chr4:22493800-22501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:22493800-22501800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:22494000-22501200	Weak transcription	Fetal Intestine Large	intestine
47	chr4:22494200-22494800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:22494200-22498000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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