Variant report

Variant	rs62310289
Chromosome Location	chr4:57828926-57828927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57827601..57829971-chr4:57841929..57844795,2	MCF-7	breast:
2	chr4:57826815..57829812-chr4:57841300..57844628,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10032625	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11936328	0.89[EUR][1000 genomes]
rs1277275	0.84[ASN][1000 genomes]
rs1708762	0.87[AMR][1000 genomes]
rs1708764	0.87[AMR][1000 genomes]
rs1708788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718828	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280804	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865164	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6840624	0.84[EUR][1000 genomes]
rs781546	0.87[AMR][1000 genomes]
rs781547	0.80[AMR][1000 genomes]
rs781548	0.80[AMR][1000 genomes]
rs781550	0.87[AMR][1000 genomes]
rs796680	0.80[AMR][1000 genomes]
rs796681	0.80[AMR][1000 genomes]
rs802920	0.91[AMR][1000 genomes];1.00[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
4	chr4:57805000-57830800	Weak transcription	Colonic Mucosa	Colon
5	chr4:57820200-57836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:57820200-57836000	Weak transcription	Esophagus	oesophagus
7	chr4:57821200-57829400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57821600-57832600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:57822600-57832600	Weak transcription	Fetal Brain Male	brain
10	chr4:57824000-57831400	Weak transcription	Right Ventricle	heart
11	chr4:57824400-57830400	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:57824600-57829000	Weak transcription	Ovary	ovary
13	chr4:57824600-57838400	Weak transcription	Aorta	Aorta
14	chr4:57825200-57829200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:57825200-57829200	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:57825200-57829400	Weak transcription	Brain Angular Gyrus	brain
17	chr4:57825200-57829400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:57825200-57829400	Weak transcription	HSMMtube	muscle
19	chr4:57825200-57829600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:57825200-57829600	Weak transcription	NHEK	skin
21	chr4:57825200-57830600	Weak transcription	Brain Substantia Nigra	brain
22	chr4:57825200-57830800	Weak transcription	HUVEC	blood vessel
23	chr4:57825200-57832400	Weak transcription	A549	lung
24	chr4:57825400-57829600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:57825400-57830600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:57825400-57830600	Weak transcription	K562	blood
27	chr4:57825400-57830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:57825400-57831000	Weak transcription	Fetal Kidney	kidney
29	chr4:57825600-57829400	Weak transcription	NHDF-Ad	bronchial
30	chr4:57825600-57829600	Weak transcription	HepG2	liver
31	chr4:57825600-57830400	Weak transcription	NHLF	lung
32	chr4:57825600-57832200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:57825600-57832600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:57825600-57838600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:57826000-57830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:57826000-57832000	Weak transcription	Psoas Muscle	Psoas
37	chr4:57826400-57831800	Weak transcription	Gastric	stomach
38	chr4:57826400-57839800	Strong transcription	Primary T cells from cord blood	blood
39	chr4:57826600-57832200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:57826600-57833400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:57826600-57834400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr4:57826600-57834600	Strong transcription	Fetal Stomach	stomach
43	chr4:57826600-57835200	Strong transcription	Brain Anterior Caudate	brain
44	chr4:57826600-57838600	Strong transcription	Fetal Intestine Small	intestine
45	chr4:57826600-57838800	Strong transcription	Liver	Liver
46	chr4:57826600-57839000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:57826600-57839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:57826600-57840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:57826600-57840800	Strong transcription	Fetal Brain Female	brain
50	chr4:57826600-57840800	Strong transcription	Fetal Muscle Leg	muscle

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