Variant report

Variant	rs62248910
Chromosome Location	chr3:47302036-47302037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47301723..47304514-chr3:47315483..47317535,2	K562	blood:
2	chr3:47204838..47207181-chr3:47301798..47304329,2	K562	blood:
3	chr3:47300745..47303547-chr3:47303830..47308178,3	K562	blood:

Variant related genes	Relation type
ENSG00000088727	Chromatin interaction
ENSG00000181555	Chromatin interaction
ENSG00000227398	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11707038	1.00[ASN][1000 genomes]
rs1874265	1.00[ASN][1000 genomes]
rs1982510	1.00[ASN][1000 genomes]
rs55691981	1.00[ASN][1000 genomes]
rs56121448	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273245	1.00[ASN][1000 genomes]
rs57249369	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246379	1.00[ASN][1000 genomes]
rs62246404	1.00[ASN][1000 genomes]
rs62246409	1.00[ASN][1000 genomes]
rs62246470	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62248895	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62248950	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73075647	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079603	1.00[ASN][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47264200-47322200	Weak transcription	Gastric	stomach
2	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea
8	chr3:47285600-47312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:47293600-47302800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:47293600-47323200	Weak transcription	Spleen	Spleen
11	chr3:47299400-47308200	Weak transcription	Right Atrium	heart
12	chr3:47299600-47307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:47300800-47322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:47301000-47302200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:47301000-47302200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:47301000-47302400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:47301000-47305000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:47301000-47306800	Weak transcription	Lung	lung
19	chr3:47301000-47322800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:47301200-47323000	Weak transcription	Psoas Muscle	Psoas
21	chr3:47301600-47302800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:47301600-47302800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:47301800-47302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:47301800-47303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:47302000-47302200	Enhancers	HepG2	liver
26	chr3:47302000-47302400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:47302000-47302400	Enhancers	HSMMtube	muscle
28	chr3:47302000-47302600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:47302000-47302600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:47302000-47302600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:47302000-47302800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:47302000-47303000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:47302000-47303000	Enhancers	Placenta	Placenta
34	chr3:47302000-47303200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:47302000-47303400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:47302000-47303400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:47302000-47303400	Enhancers	HUES6 Cell Line	embryonic stem cell

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