Variant report

Variant	rs72943888
Chromosome Location	chr3:51367791-51367792
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	chr3:51366945..51369566-chr3:51372155..51374313,2	K562	blood:
2	chr3:51367010..51371078-chr3:51375773..51379297,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1480366	1.00[AMR][1000 genomes]
rs17051685	1.00[AMR][1000 genomes]
rs17051802	1.00[AMR][1000 genomes]
rs4280628	1.00[AMR][1000 genomes]
rs57019473	1.00[AMR][1000 genomes]
rs58807639	1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs61452834	1.00[AMR][1000 genomes]
rs61578076	1.00[AMR][1000 genomes]
rs72945711	1.00[AMR][1000 genomes]
rs72945738	1.00[AMR][1000 genomes]
rs72945741	1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	1.00[AMR][1000 genomes]
rs72951469	1.00[AMR][1000 genomes]
rs72951474	1.00[AMR][1000 genomes]
rs72951478	1.00[AMR][1000 genomes]
rs72951489	1.00[AMR][1000 genomes]
rs880477	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv20206	chr3:51344873-51415825	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51340000-51370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:51341600-51372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:51344200-51371800	Weak transcription	Brain Substantia Nigra	brain
4	chr3:51351800-51369200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:51352800-51369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:51353000-51370000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:51353000-51370200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:51353200-51370200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:51353400-51369400	Weak transcription	Fetal Brain Female	brain
10	chr3:51353400-51375800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:51353400-51377600	Weak transcription	Left Ventricle	heart
12	chr3:51358000-51376200	Weak transcription	HSMMtube	muscle
13	chr3:51358800-51377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:51364200-51375800	Weak transcription	Right Ventricle	heart
15	chr3:51366400-51377600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:51366600-51377400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:51366800-51371400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:51367200-51371600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:51367400-51372000	Strong transcription	Brain Angular Gyrus	brain
20	chr3:51367600-51368200	Strong transcription	Brain Anterior Caudate	brain
21	chr3:51367600-51368200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr3:51367600-51368400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr3:51367600-51377800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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