Variant report

Variant	rs2797492
Chromosome Location	chr10:5790616-5790617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr10:5790429-5790889	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:5790183-5791222	HepG2	liver:	n/a	n/a
3	FOXA2	chr10:5790331-5790857	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:5790259-5791647	K562	blood:	n/a	n/a
5	POLR2A	chr10:5790287-5790637	K562	blood:	n/a	n/a
6	FOSL2	chr10:5790280-5790844	HepG2	liver:	n/a	n/a
7	MAFK	chr10:5790234-5790619	HepG2	liver:	n/a	n/a
8	MXI1	chr10:5790429-5790721	HepG2	liver:	n/a	n/a
9	FOXA1	chr10:5790288-5790943	HepG2	liver:	n/a	n/a
10	EP300	chr10:5790280-5790810	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:5790226-5790669	K562	blood:	n/a	n/a
12	MYBL2	chr10:5790135-5791083	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:5790482-5790856	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:5790411-5791675	GM12892	blood:	n/a	n/a
15	EP300	chr10:5790330-5790823	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:5790126-5790670	GM12891	blood:	n/a	n/a
17	MAFF	chr10:5790233-5790670	HepG2	liver:	n/a	n/a
18	NFIC	chr10:5790254-5790883	HepG2	liver:	n/a	n/a
19	HNF4A	chr10:5790256-5790867	HepG2	liver:	n/a	n/a
20	FOXA1	chr10:5790259-5790890	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:5789475-5792015	K562	blood:	n/a	n/a
22	POLR2A	chr10:5790339-5790668	GM12878	blood:	n/a	n/a
23	BHLHE40	chr10:5790509-5790787	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:5790255-5790847	HepG2	liver:	n/a	n/a
25	POLR2A	chr10:5790301-5791598	K562	blood:	n/a	n/a
26	SP1	chr10:5790220-5790907	HepG2	liver:	n/a	n/a
27	FOXA1	chr10:5790322-5790981	HepG2	liver:	n/a	n/a
28	MYBL2	chr10:5790269-5790976	HepG2	liver:	n/a	n/a
29	MBD4	chr10:5790244-5790823	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:5790495-5790638	HepG2	liver:	n/a	n/a
31	FOXA2	chr10:5790120-5790901	HepG2	liver:	n/a	n/a
32	TEAD4	chr10:5790219-5790860	HepG2	liver:	n/a	n/a
33	POLR2A	chr10:5790311-5790621	Hela-S3	cervix:	n/a	n/a
34	RXRA	chr10:5790357-5790887	HepG2	liver:	n/a	n/a
35	MAX	chr10:5790170-5790873	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:5789538..5791472-chr10:5854580..5857407,2	MCF-7	breast:
2	chr10:5772758..5775590-chr10:5788161..5791817,4	K562	blood:
3	chr10:5790348..5792508-chr10:5799025..5802619,3	MCF-7	breast:
4	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:
5	chr10:5784282..5786908-chr10:5787858..5790762,3	K562	blood:
6	chr10:5784300..5786854-chr10:5789948..5792602,3	K562	blood:
7	chr10:5789491..5791998-chr10:5812764..5814807,2	K562	blood:
8	chr10:5781284..5783375-chr10:5788559..5791168,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226647	TF binding region
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000226647	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11254115	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254898	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11255139	0.81[ASN][1000 genomes]
rs12257412	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12571055	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572339	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567708	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2246268	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275772	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669133	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2669139	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797490	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797497	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34404996	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750636	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3793708	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3793714	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3924378	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs57103262	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58502403	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59827083	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7089693	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7096328	0.87[ASN][1000 genomes]
rs73610559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7908235	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 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	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:5762400-5794600	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr10:5762600-5843400	Strong transcription	Dnd41	blood
4	chr10:5762800-5793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:5767200-5792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:5775200-5794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
11	chr10:5779000-5804600	Strong transcription	A549	lung
12	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
14	chr10:5779600-5793800	Strong transcription	HSMM	muscle
15	chr10:5780400-5791400	Strong transcription	Liver	Liver
16	chr10:5780400-5791400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:5780600-5792000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:5780600-5793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:5780800-5792200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:5781200-5791400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:5781400-5790800	Strong transcription	HSMMtube	muscle
22	chr10:5781400-5791600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:5781400-5792000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:5781400-5792600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr10:5781400-5793000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:5781600-5791800	Strong transcription	Thymus	Thymus
28	chr10:5781600-5792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:5781600-5792200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:5781600-5792400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:5781600-5792600	Strong transcription	Osteobl	bone
32	chr10:5781600-5794400	Strong transcription	Adipose Nuclei	Adipose
33	chr10:5781600-5796200	Strong transcription	Fetal Muscle Leg	muscle
34	chr10:5781600-5796400	Strong transcription	Placenta	Placenta
35	chr10:5781800-5791000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:5781800-5792200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:5783400-5796600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr10:5783600-5792000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr10:5783800-5792000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:5783800-5792800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:5784000-5791200	Strong transcription	HMEC	breast
43	chr10:5784800-5791800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:5784800-5799400	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
46	chr10:5785200-5791000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:5785200-5792000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:5785400-5791400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:5785600-5792800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:5785800-5796800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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