Variant report

Variant	rs17658423
Chromosome Location	chr4:54372037-54372038
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54371859..54372579-chr4:54457711..54458285,2	MCF-7	breast:
2	chr4:54371855..54372509-chr4:54481038..54481545,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072201	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10001337	0.91[CEU][hapmap];0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10012328	0.91[CEU][hapmap]
rs17657105	0.91[CEU][hapmap]
rs17705995	0.83[CEU][hapmap]
rs1865510	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292580	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28591554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28644315	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7349642	0.91[CEU][hapmap]
rs9992650	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54329600-54373600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:54329800-54374000	Weak transcription	Left Ventricle	heart
3	chr4:54333000-54374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
5	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
6	chr4:54346400-54374000	Weak transcription	Right Ventricle	heart
7	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
9	chr4:54356600-54373400	Weak transcription	Right Atrium	heart
10	chr4:54362400-54374200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:54362800-54373000	Weak transcription	Liver	Liver
12	chr4:54362800-54376000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:54363200-54373400	Weak transcription	Gastric	stomach
14	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
15	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:54364200-54373200	Weak transcription	Adipose Nuclei	Adipose
17	chr4:54364200-54373200	Weak transcription	NHDF-Ad	bronchial
18	chr4:54365400-54374200	Weak transcription	Fetal Stomach	stomach
19	chr4:54365600-54374000	Weak transcription	Aorta	Aorta
20	chr4:54365800-54374000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:54366600-54373200	Weak transcription	HSMM	muscle
22	chr4:54366600-54373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:54366600-54373400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:54366600-54373800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
26	chr4:54366800-54373400	Weak transcription	HSMMtube	muscle
27	chr4:54368000-54372600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:54368000-54376600	Weak transcription	Ovary	ovary
29	chr4:54370600-54373200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:54370800-54374800	Strong transcription	Placenta	Placenta
31	chr4:54371400-54372600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:54371600-54373200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:54371800-54372800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:54371800-54374400	Strong transcription	Fetal Intestine Large	intestine
35	chr4:54372000-54373200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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