Variant report

Variant	rs10439427
Chromosome Location	chr2:46975336-46975337
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	chr2:46972029..46974596-chr2:46974621..46976270,2	K562	blood:
2	chr2:46925151..46928647-chr2:46973224..46976645,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10187320	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10192254	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10196768	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10204610	0.89[ASN][1000 genomes]
rs10221923	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10439469	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12329330	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391877	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13402099	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13420535	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13421701	0.93[AFR][1000 genomes]
rs13424717	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13426735	1.00[ASN][1000 genomes]
rs13432741	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17771838	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35750425	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS 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	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv3459561	chr2:46967674-46979121	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3459562	chr2:46967674-46979121	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv14887	chr2:46967820-46978960	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv2760650	chr2:46970686-46978878	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
4	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
5	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
6	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:46956000-46975400	Weak transcription	Lung	lung
9	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
10	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:46965400-46979200	Weak transcription	Psoas Muscle	Psoas
15	chr2:46965600-46980800	Weak transcription	Fetal Heart	heart
16	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
17	chr2:46968000-46979200	Weak transcription	Left Ventricle	heart
18	chr2:46968000-46980000	Weak transcription	Spleen	Spleen
19	chr2:46968200-46976000	Weak transcription	Stomach Mucosa	stomach
20	chr2:46968200-46976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:46969400-46976000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:46972600-46977400	Enhancers	NHLF	lung
24	chr2:46972600-46981000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:46972800-46976000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:46973200-46981400	Enhancers	NHDF-Ad	bronchial
28	chr2:46973400-46985600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:46973600-46980000	Enhancers	Osteobl	bone
30	chr2:46974000-46976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:46974200-46975400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:46974200-46975600	Enhancers	A549	lung
33	chr2:46974200-46976600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:46974200-46983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:46974400-46975600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:46974400-46975800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:46974400-46975800	Enhancers	Pancreas	Pancrea
38	chr2:46974400-46976000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:46974400-46976200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:46974400-46976600	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:46974400-46976800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:46974400-46977000	Enhancers	Colon Smooth Muscle	Colon
43	chr2:46974400-46977200	Enhancers	HMEC	breast
44	chr2:46974400-46977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:46974400-46977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:46974400-46977400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:46974400-46977400	Enhancers	Fetal Stomach	stomach
48	chr2:46974400-46980000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:46974600-46975600	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:46974600-46975800	Enhancers	Right Ventricle	heart

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