Variant report

Variant	rs4697309
Chromosome Location	chr4:22492533-22492534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22486301..22488142-chr4:22490876..22493757,2	MCF-7	breast:
2	chr4:22491618..22493227-chr4:22516915..22519248,2	MCF-7	breast:
3	chr4:22487743..22489336-chr4:22491654..22493275,2	K562	blood:
4	chr4:22487490..22489243-chr4:22491775..22493390,2	K562	blood:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10938903	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12504167	0.83[ASN][1000 genomes]
rs13103323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13113896	0.88[ASN][1000 genomes]
rs13135791	0.87[ASN][1000 genomes]
rs1462988	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1841823	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4697014	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4697015	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4697018	0.83[ASN][1000 genomes]
rs4697308	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4697312	0.88[ASN][1000 genomes]
rs7670164	0.82[ASN][1000 genomes]
rs7692390	0.83[ASN][1000 genomes]
rs7697048	0.83[ASN][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:22484800-22498400	Weak transcription	Gastric	stomach
5	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
6	chr4:22485600-22493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
8	chr4:22485600-22502000	Weak transcription	A549	lung
9	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:22488000-22494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
12	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:22488800-22496800	Weak transcription	HMEC	breast
14	chr4:22488800-22497800	Weak transcription	NHEK	skin
15	chr4:22488800-22503600	Weak transcription	NHLF	lung
16	chr4:22489400-22493200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:22489400-22496800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:22489400-22496800	Weak transcription	Fetal Stomach	stomach
19	chr4:22489400-22500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:22489600-22503800	Weak transcription	HSMM	muscle
21	chr4:22490000-22492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:22490200-22494600	Weak transcription	Left Ventricle	heart
23	chr4:22490200-22500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:22490200-22501600	Weak transcription	Psoas Muscle	Psoas
25	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
26	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
27	chr4:22490400-22494000	Enhancers	Fetal Intestine Large	intestine
28	chr4:22490800-22493800	Enhancers	Fetal Intestine Small	intestine
29	chr4:22491400-22493000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:22492000-22492600	Enhancers	Fetal Heart	heart
31	chr4:22492000-22492800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr4:22492000-22495000	Enhancers	HepG2	liver
33	chr4:22492200-22492600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:22492200-22492600	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:22492200-22494600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:22492200-22494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:22492400-22492600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:22492400-22492600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:22492400-22492600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:22492400-22492600	Enhancers	HSMMtube	muscle
41	chr4:22492400-22492800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:22492400-22492800	Enhancers	Liver	Liver
43	chr4:22492400-22492800	Enhancers	Brain Anterior Caudate	brain
44	chr4:22492400-22492800	Active TSS	Duodenum Mucosa	Duodenum
45	chr4:22492400-22492800	Enhancers	Fetal Muscle Leg	muscle
46	chr4:22492400-22492800	Enhancers	Lung	lung
47	chr4:22492400-22492800	Enhancers	Ovary	ovary
48	chr4:22492400-22492800	Enhancers	Pancreas	Pancrea
49	chr4:22492400-22492800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:22492400-22493000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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