Variant report

Variant	rs72729813
Chromosome Location	chr4:147228715-147228716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147227740..147230606-chr4:147233012..147234807,2	K562	blood:
2	chr4:147228131..147230606-chr4:147231821..147234512,2	K562	blood:
3	chr4:147228585..147230437-chr4:147230480..147232444,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12502664	1.00[ASN][1000 genomes]
rs57251201	1.00[ASN][1000 genomes]
rs59746748	1.00[ASN][1000 genomes]
rs72727929	1.00[ASN][1000 genomes]
rs72727933	1.00[ASN][1000 genomes]
rs72727934	1.00[ASN][1000 genomes]
rs72727984	1.00[ASN][1000 genomes]
rs72727994	1.00[ASN][1000 genomes]
rs72727996	1.00[ASN][1000 genomes]
rs72727998	1.00[ASN][1000 genomes]
rs72729816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729818	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729836	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729863	1.00[ASN][1000 genomes]
rs72729867	1.00[ASN][1000 genomes]
rs72729884	1.00[ASN][1000 genomes]
rs72729891	1.00[ASN][1000 genomes]
rs72729896	1.00[ASN][1000 genomes]
rs72729898	1.00[ASN][1000 genomes]
rs72731814	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147180400-147233200	Weak transcription	Liver	Liver
3	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
5	chr4:147208200-147234200	Weak transcription	Lung	lung
6	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:147208400-147254600	Weak transcription	Gastric	stomach
9	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
10	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:147209600-147229200	Weak transcription	Ovary	ovary
13	chr4:147212800-147229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:147222800-147235800	Weak transcription	Esophagus	oesophagus
17	chr4:147224200-147235200	Weak transcription	Psoas Muscle	Psoas
18	chr4:147224400-147230600	Weak transcription	GM12878-XiMat	blood
19	chr4:147225600-147229200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:147225600-147230400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:147225600-147245600	Weak transcription	Primary B cells from cord blood	blood
22	chr4:147226400-147229800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:147227800-147228800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:147227800-147231000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:147228200-147232000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:147228400-147229400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:147228400-147230800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:147228400-147235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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