Variant report

Variant	rs12473923
Chromosome Location	chr2:74376326-74376327
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:74374212-74376798	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:74376257-74376698	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:74374709-74376848	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:74375926-74376502	GM12878	blood:	n/a	n/a
5	CEBPB	chr2:74376199-74376697	K562	blood:	n/a	n/a
6	POLR2A	chr2:74374855-74381076	K562	blood:	n/a	n/a
7	MAX	chr2:74376215-74376630	K562	blood:	n/a	n/a
8	TBP	chr2:74376319-74376488	K562	blood:	n/a	n/a
9	MTA3	chr2:74374178-74377005	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:74375701-74376394	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr2:74376160-74377034	PANC-1	pancreas:	n/a	n/a
12	MXI1	chr2:74374039-74376421	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:74374775-74377103	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:74374386-74376981	GM12892	blood:	n/a	n/a
15	USF1	chr2:74376308-74376603	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:74375722-74376961	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr2:74374827-74376326	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:74374246-74377069	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:74374204-74376550	K562	blood:	n/a	n/a
20	POLR2A	chr2:74374512-74376834	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr2:74374848-74377062	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:74376251-74376620	K562	blood:	n/a	n/a
23	POLR2A	chr2:74376212-74379622	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:74376242-74376762	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:74376304-74376979	A549	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74055393..74058315-chr2:74373246..74376437,5	K562	blood:
2	chr2:74372636..74376479-chr2:74402961..74407334,5	K562	blood:
3	chr2:74374841..74376472-chr2:74433391..74435276,2	K562	blood:
4	chr2:74206459..74210168-chr2:74373577..74376532,3	K562	blood:
5	chr2:74208160..74210258-chr2:74374135..74376647,3	MCF-7	breast:
6	chr2:74364875..74366698-chr2:74375403..74377505,2	MCF-7	breast:
7	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
8	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
9	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
10	chr2:74346321..74348591-chr2:74373615..74376560,4	MCF-7	breast:
11	chr2:74373512..74376720-chr2:74404630..74408955,6	K562	blood:
12	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
13	chr2:74373555..74376913-chr2:74449791..74454753,5	K562	blood:
14	chr2:74152937..74154574-chr2:74375552..74378135,2	MCF-7	breast:
15	chr2:74372816..74377340-chr2:74403923..74407839,6	MCF-7	breast:
16	chr2:74345450..74348977-chr2:74371413..74376785,7	MCF-7	breast:
17	chr16:2013639..2015347-chr2:74374765..74376593,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-1	chr2:74375825-74377170	XLOC_001532
2	lnc-AC073263.1-1	chr2:74375834-74378011	XLOC_001532
3	lnc-AC073263.1-1	chr2:74375825-74377170	XLOC_001532
4	lnc-AC073263.1-1	chr2:74375825-74377188	ENSG00000225439.2
5	lnc-AC073263.1-1	chr2:74375825-74377115	ENSG00000225439.2
6	lnc-AC073263.1-2	chr2:74375825-74379516	NONHSAT071666
7	lnc-AC073263.1-2	chr2:74375825-74382164	NONHSAT071668
8	lnc-AC073263.1-2	chr2:74375825-74379516	NR_045634

No data

Variant related genes	Relation type
BOLA3	TF binding region
ENSG00000235499	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000255513	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13002080	1.00[ASN][1000 genomes]
rs72818043	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74374000-74376400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr2:74374200-74376600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:74374400-74376400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:74375200-74376800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:74375400-74377200	Flanking Active TSS	K562	blood
6	chr2:74375600-74376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:74375600-74379000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:74375600-74380000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:74375600-74380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:74375600-74380400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:74375600-74381600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:74375600-74381600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:74375800-74376600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:74375800-74376600	Flanking Active TSS	Fetal Brain Female	brain
15	chr2:74375800-74376800	Enhancers	Spleen	Spleen
16	chr2:74375800-74377000	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:74375800-74377800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:74375800-74377800	Weak transcription	A549	lung
19	chr2:74375800-74378200	Weak transcription	Primary T cells from cord blood	blood
20	chr2:74375800-74378400	Weak transcription	Left Ventricle	heart
21	chr2:74375800-74378600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:74375800-74378600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:74375800-74378800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:74375800-74379400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:74375800-74379800	Weak transcription	Liver	Liver
26	chr2:74375800-74380000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:74375800-74380000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:74375800-74381400	Weak transcription	Hela-S3	cervix
29	chr2:74375800-74383400	Weak transcription	Psoas Muscle	Psoas
30	chr2:74375800-74391200	Weak transcription	Aorta	Aorta
31	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
32	chr2:74376000-74376400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:74376000-74376400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:74376000-74376400	Weak transcription	Right Atrium	heart
35	chr2:74376000-74376600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:74376000-74376600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:74376000-74376600	Enhancers	Fetal Lung	lung
38	chr2:74376000-74376600	Flanking Active TSS	HepG2	liver
39	chr2:74376000-74376800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:74376000-74376800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:74376000-74376800	Enhancers	Fetal Stomach	stomach
42	chr2:74376000-74376800	Enhancers	Pancreas	Pancrea
43	chr2:74376000-74377400	Weak transcription	Fetal Thymus	thymus
44	chr2:74376000-74377600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:74376000-74377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:74376000-74377600	Weak transcription	GM12878-XiMat	blood
47	chr2:74376000-74377800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:74376000-74377800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:74376000-74377800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:74376000-74377800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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