Variant report

Variant	rs536230235
Chromosome Location	chr10:25240839-25240840
allele	C/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	IRF1	chr10:25240388-25241107	K562	blood:	n/a	chr10:25240555-25240569 chr10:25241037-25241049
2	YY1	chr10:25240418-25241154	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:25240578-25242391	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:25240495-25240985	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr10:25240678-25240878	K562	blood:	n/a	n/a
6	RFX5	chr10:25240557-25240850	GM12878	blood:	n/a	n/a
7	TAF1	chr10:25240585-25241128	K562	blood:	n/a	n/a
8	POLR2A	chr10:25240388-25241196	K562	blood:	n/a	n/a
9	POLR2A	chr10:25240765-25240959	Hela-S3	cervix:	n/a	n/a
10	ZNF143	chr10:25240546-25241008	K562	blood:	n/a	chr10:25240833-25240851
11	E2F6	chr10:25240834-25242460	A549	lung:	n/a	chr10:25241284-25241296 chr10:25241518-25241529 chr10:25241751-25241760 chr10:25241720-25241729 chr10:25241517-25241529 chr10:25241842-25241851 chr10:25241284-25241293 chr10:25241831-25241841 chr10:25241535-25241547 chr10:25241803-25241813 chr10:25241536-25241547
12	POLR2A	chr10:25240181-25244662	K562	blood:	n/a	n/a
13	SMC3	chr10:25240562-25240892	GM12878	blood:	n/a	n/a
14	GTF2F1	chr10:25240606-25241039	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr10:25240622-25242272	GM12878	blood:	n/a	chr10:25241832-25241848 chr10:25241803-25241819 chr10:25241723-25241739 chr10:25241792-25241808
16	MAX	chr10:25240740-25241287	K562	blood:	n/a	n/a
17	YY1	chr10:25240727-25241125	K562	blood:	n/a	n/a
18	UBTF	chr10:25240562-25242561	K562	blood:	n/a	n/a
19	TBP	chr10:25240505-25241016	GM12878	blood:	n/a	n/a
20	CBX3	chr10:25240478-25241030	K562	blood:	n/a	n/a
21	EBF1	chr10:25240630-25240854	GM12878	blood:	n/a	n/a
22	E2F6	chr10:25240562-25242230	H1-hESC	embryonic stem cell:	n/a	chr10:25241284-25241296 chr10:25241518-25241529 chr10:25241751-25241760 chr10:25241720-25241729 chr10:25241517-25241529 chr10:25241842-25241851 chr10:25241284-25241293 chr10:25241831-25241841 chr10:25241535-25241547 chr10:25241803-25241813 chr10:25241536-25241547
23	MAX	chr10:25240488-25242348	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr10:25240350-25242595	K562	blood:	n/a	n/a
25	POLR2A	chr10:25240548-25242157	Gliobla	brain:	n/a	n/a
26	TAF7	chr10:25240518-25241172	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr10:25240297-25242230	H1-hESC	embryonic stem cell:	n/a	chr10:25240833-25240851 chr10:25241686-25241696
28	HMGN3	chr10:25240572-25242067	K562	blood:	n/a	n/a
29	MAZ	chr10:25240733-25240933	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:25240291-25242512	K562	blood:	n/a	n/a
31	ZNF384	chr10:25240689-25240965	K562	blood:	n/a	n/a
32	EP300	chr10:25240384-25241120	K562	blood:	n/a	n/a
33	SIN3A	chr10:25240309-25242360	H1-hESC	embryonic stem cell:	n/a	chr10:25241794-25241807 chr10:25242209-25242218
34	MAFK	chr10:25240498-25240993	K562	blood:	n/a	chr10:25240652-25240667
35	UBTF	chr10:25240600-25242563	K562	blood:	n/a	n/a
36	ZMIZ1	chr10:25240569-25242628	K562	blood:	n/a	n/a
37	YY1	chr10:25240644-25242186	K562	blood:	n/a	chr10:25241842-25241851 chr10:25241803-25241817 chr10:25241837-25241851 chr10:25241805-25241814 chr10:25241284-25241293 chr10:25241797-25241811 chr10:25241834-25241848 chr10:25241714-25241723 chr10:25241802-25241811
38	POLR2A	chr10:25240583-25242147	GM19099	blood:	n/a	n/a
39	MYC	chr10:25240816-25240857	K562	blood:	n/a	n/a
40	MYC	chr10:25240599-25242486	K562	blood:	n/a	n/a
41	CTCF	chr10:25240578-25241058	K562	blood:	n/a	n/a
42	PML	chr10:25240449-25241152	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:25240175-25242598	H1-hESC	embryonic stem cell:	n/a	n/a
44	WRNIP1	chr10:25240403-25241036	GM12878	blood:	n/a	n/a
45	RAD21	chr10:25240221-25240924	H1-hESC	embryonic stem cell:	n/a	chr10:25240834-25240847
46	TAF1	chr10:25240656-25241207	K562	blood:	n/a	n/a
47	IRF1	chr10:25240541-25241156	K562	blood:	n/a	chr10:25240555-25240569 chr10:25241037-25241049
48	RCOR1	chr10:25240424-25240972	K562	blood:	n/a	n/a
49	HEY1	chr10:25240615-25241127	K562	blood:	n/a	n/a
50	SMC3	chr10:25240491-25242275	Hela-S3	cervix:	n/a	chr10:25241807-25241821 chr10:25241807-25241817

No.	Distal block	Cell Line	Cell type
1	chr10:25010748..25013945-chr10:25238648..25242767,8	MCF-7	breast:
2	chr10:25010212..25016288-chr10:25239162..25243925,7	K562	blood:
3	chr10:25009082..25014020-chr10:25238727..25242865,5	K562	blood:
4	chr10:25239754..25241501-chr10:25279969..25281607,2	K562	blood:
5	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:

Variant related genes	Relation type
ENSG00000273107	TF binding region
ENSG00000107863	Chromatin interaction
ENSG00000185875	Chromatin interaction
ENSG00000151023	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3433843	chr10:25240746-25242744	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25236200-25241000	Weak transcription	Thymus	Thymus
2	chr10:25237000-25241000	Weak transcription	Ovary	ovary
3	chr10:25237400-25241400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:25237800-25241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:25239400-25241000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:25239800-25241000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:25240000-25241000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr10:25240000-25241000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr10:25240000-25241000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:25240000-25241000	Flanking Active TSS	Fetal Brain Male	brain
11	chr10:25240000-25241000	Flanking Active TSS	Fetal Brain Female	brain
12	chr10:25240000-25241000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr10:25240000-25241000	Enhancers	Right Ventricle	heart
14	chr10:25240000-25241000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr10:25240000-25241200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:25240000-25241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:25240000-25241200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr10:25240000-25241200	Enhancers	Spleen	Spleen
19	chr10:25240000-25241400	Enhancers	Fetal Heart	heart
20	chr10:25240200-25241000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr10:25240200-25241000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr10:25240200-25241000	Weak transcription	Lung	lung
23	chr10:25240200-25243000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:25240400-25241000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:25240400-25241000	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr10:25240400-25241000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr10:25240400-25241000	Flanking Active TSS	A549	lung
28	chr10:25240400-25241000	Flanking Active TSS	K562	blood
29	chr10:25240400-25242600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr10:25240400-25242600	Flanking Active TSS	Dnd41	blood
31	chr10:25240600-25241000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:25240600-25241000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:25240600-25241000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:25240600-25241000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:25240600-25241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr10:25240600-25241000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr10:25240600-25241000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:25240600-25241000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr10:25240600-25241000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:25240600-25241000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr10:25240600-25241000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:25240600-25241000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr10:25240600-25241000	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr10:25240600-25241000	Enhancers	Placenta	Placenta
45	chr10:25240600-25241000	Flanking Active TSS	Fetal Stomach	stomach
46	chr10:25240600-25241000	Enhancers	Gastric	stomach
47	chr10:25240600-25241000	Enhancers	Left Ventricle	heart
48	chr10:25240600-25241000	Weak transcription	Pancreas	Pancrea
49	chr10:25240600-25241000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr10:25240600-25241000	Enhancers	Small Intestine	intestine

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