Variant report

Variant	rs57040272
Chromosome Location	chr10:28030502-28030503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:28029911-28030690	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:28030306-28030502	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:28030480-28030630	GM12870	blood:	n/a	n/a
4	MAX	chr10:28029880-28031450	H1-hESC	embryonic stem cell:	n/a	chr10:28031404-28031413
5	YY1	chr10:28030321-28030563	H1-hESC	embryonic stem cell:	n/a	chr10:28030414-28030426
6	HMGN3	chr10:28030447-28030578	K562	blood:	n/a	n/a
7	MAX	chr10:28029755-28031448	H1-hESC	embryonic stem cell:	n/a	chr10:28031404-28031413
8	TBP	chr10:28030043-28030627	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr10:28029879-28031338	H1-hESC	embryonic stem cell:	n/a	chr10:28030232-28030246 chr10:28030776-28030786 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28031268-28031277
10	CTBP2	chr10:28029973-28035811	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr10:28029638-28031447	H1-hESC	embryonic stem cell:	n/a	chr10:28030232-28030246 chr10:28030776-28030786 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28031268-28031277
12	TEAD4	chr10:28029996-28030714	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28030500..28032197-chr10:28034707..28036331,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230500	TF binding region
ENSG00000150051	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10437435	1.00[AMR][1000 genomes]
rs12098473	0.80[AFR][1000 genomes]
rs12240762	1.00[AMR][1000 genomes]
rs12261080	1.00[AMR][1000 genomes]
rs16928129	1.00[AMR][1000 genomes]
rs16928237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928281	0.85[AFR][1000 genomes]
rs16928301	0.80[AFR][1000 genomes]
rs16928302	0.80[AFR][1000 genomes]
rs73604025	1.00[AMR][1000 genomes]
rs73604054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604055	0.91[AFR][1000 genomes]
rs73604056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604069	0.85[AFR][1000 genomes]
rs73604071	0.80[AFR][1000 genomes]
rs73604072	0.80[AFR][1000 genomes]
rs73604075	0.80[AFR][1000 genomes]
rs7923439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv831813	chr10:28017606-28200651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28018000-28030600	Weak transcription	Aorta	Aorta
2	chr10:28020600-28030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:28026000-28030600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:28026200-28030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:28026200-28030600	Weak transcription	Osteobl	bone
6	chr10:28026400-28030600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:28029800-28031000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr10:28029800-28032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr10:28029800-28033200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:28029800-28035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:28029800-28036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr10:28030000-28030600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr10:28030000-28030600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:28030000-28030800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:28030000-28030800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr10:28030000-28030800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr10:28030000-28031200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr10:28030000-28032800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:28030000-28033400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:28030000-28033600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr10:28030000-28036600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:28030200-28030600	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr10:28030200-28030600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:28030200-28030600	Enhancers	Liver	Liver
25	chr10:28030200-28030600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr10:28030200-28030600	Genic enhancers	Ovary	ovary
27	chr10:28030200-28030600	Enhancers	Right Atrium	heart
28	chr10:28030200-28030800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:28030200-28030800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:28030200-28030800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr10:28030200-28030800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr10:28030200-28030800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr10:28030200-28030800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:28030200-28030800	Bivalent Enhancer	Lung	lung
35	chr10:28030200-28030800	Enhancers	Pancreas	Pancrea
36	chr10:28030200-28031000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:28030200-28031200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr10:28030200-28031200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:28030200-28031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:28030200-28031200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr10:28030200-28031200	Enhancers	Gastric	stomach
42	chr10:28030200-28031200	Bivalent Enhancer	Left Ventricle	heart
43	chr10:28030200-28031200	Enhancers	Spleen	Spleen
44	chr10:28030200-28031400	Bivalent Enhancer	Fetal Heart	heart
45	chr10:28030200-28031800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:28030200-28032800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:28030200-28036200	Bivalent Enhancer	Fetal Brain Male	brain
48	chr10:28030200-28036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr10:28030400-28030600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr10:28030400-28030600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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