Variant report

Variant	rs72915482
Chromosome Location	chr2:74054860-74054861
allele	A/G
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:10)
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	MAFK	chr2:74054804-74055100	HepG2	liver:	n/a	n/a
2	MAFK	chr2:74054793-74055136	HepG2	liver:	n/a	n/a
3	MAFF	chr2:74054799-74055131	HepG2	liver:	n/a	n/a
4	CTCF	chr2:74054105-74055554	A549	lung:	n/a	chr2:74054555-74054563
5	MAFK	chr2:74054845-74055074	K562	blood:	n/a	n/a
6	MAFF	chr2:74054829-74055117	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74004444..74006020-chr2:74053313..74055286,2	K562	blood:
2	chr2:74053720..74055636-chr2:74377431..74379378,2	MCF-7	breast:
3	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
4	chr2:74054362..74057947-chr2:74372650..74375089,3	MCF-7	breast:
5	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
6	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
7	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
8	chr2:74054349..74056665-chr2:74153840..74155868,2	K562	blood:
9	chr2:74053154..74055728-chr2:74152943..74154610,2	MCF-7	breast:
10	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:

No data

Variant related genes	Relation type
STAMBP	TF binding region
ENSG00000144034	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59761642	1.00[AMR][1000 genomes]
rs60388444	1.00[AMR][1000 genomes]
rs72913464	1.00[AMR][1000 genomes]
rs72913487	1.00[AMR][1000 genomes]
rs72915423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917442	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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:74051800-74055200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74051800-74055200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:74053000-74055400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:74053800-74055400	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:74053800-74055400	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:74054400-74055200	Enhancers	HepG2	liver
7	chr2:74054600-74055000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:74054600-74055200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:74054600-74055200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:74054600-74055200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:74054600-74055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:74054600-74055400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:74054600-74055400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:74054600-74055600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:74054600-74055800	Flanking Active TSS	Dnd41	blood
16	chr2:74054800-74055200	Enhancers	Primary B cells from cord blood	blood
17	chr2:74054800-74055200	Enhancers	Primary T cells from cord blood	blood
18	chr2:74054800-74055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:74054800-74055200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:74054800-74055200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:74054800-74055200	Active TSS	GM12878-XiMat	blood
22	chr2:74054800-74055400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:74054800-74055400	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:74054800-74055400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:74054800-74055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:74054800-74055400	Enhancers	Colon Smooth Muscle	Colon

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