Variant report

Variant	rs41324947
Chromosome Location	chr2:46924684-46924685
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:46924640-46924790	SK-N-SH_RA	brain:	n/a	n/a
2	MXI1	chr2:46924630-46927097	HepG2	liver:	n/a	chr2:46926004-46926013 chr2:46926023-46926032
3	HNF4G	chr2:46924603-46925412	HepG2	liver:	n/a	chr2:46925107-46925122
4	GATA3	chr2:46924626-46926424	A549	lung:	n/a	n/a
5	MYBL2	chr2:46924533-46926284	HepG2	liver:	n/a	n/a
6	SPI1	chr2:46924402-46924773	HL-60	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46897133..46898995-chr2:46922668..46925477,2	K562	blood:
2	chr2:46923183..46926073-chr2:46944483..46946206,2	K562	blood:
3	chr2:46842180..46843861-chr2:46924432..46926384,2	K562	blood:
4	chr2:46923714..46925684-chr2:46963885..46966277,2	MCF-7	breast:
5	chr2:46915855..46917491-chr2:46923839..46925378,2	MCF-7	breast:
6	chr2:46923592..46925257-chr2:47030948..47032802,2	MCF-7	breast:
7	chr2:46919753..46923455-chr2:46923473..46925760,5	K562	blood:
8	chr2:46916264..46918533-chr2:46923065..46926019,3	K562	blood:
9	chr2:46921129..46924889-chr2:46924933..46928761,3	MCF-7	breast:

No data

Variant related genes	Relation type
SOCS5	TF binding region
ENSG00000171150	Chromatin interaction
ENSG00000119878	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28447616	1.00[AMR][1000 genomes]
rs28685737	1.00[AMR][1000 genomes]
rs41359846	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41482150	1.00[AMR][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	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription 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	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46918600-46925000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:46919200-46924800	Weak transcription	A549	lung
3	chr2:46919200-46925200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:46919200-46925200	Weak transcription	NH-A	brain
5	chr2:46919400-46924800	Weak transcription	Hela-S3	cervix
6	chr2:46919800-46925000	Weak transcription	Osteobl	bone
7	chr2:46920000-46924800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:46920400-46925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:46922600-46925200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:46922600-46925400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:46922800-46925000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:46922800-46925000	Weak transcription	NHDF-Ad	bronchial
13	chr2:46922800-46925000	Weak transcription	NHEK	skin
14	chr2:46922800-46925000	Weak transcription	NHLF	lung
15	chr2:46923000-46924800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:46923000-46925200	Weak transcription	HMEC	breast
17	chr2:46923800-46924800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:46924200-46925200	Enhancers	Brain Germinal Matrix	brain
19	chr2:46924400-46924800	Weak transcription	Placenta	Placenta
20	chr2:46924400-46925000	Enhancers	K562	blood
21	chr2:46924600-46924800	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:46924600-46925000	Enhancers	Small Intestine	intestine
23	chr2:46924600-46925200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:46924600-46925200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:46924600-46925200	Flanking Active TSS	HepG2	liver
26	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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