Variant report

Variant	rs114265006
Chromosome Location	chr10:25241328-25241329
allele	C/T
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	GTF2F1	chr10:25241302-25241487	K562	blood:	n/a	n/a
2	POLR2A	chr10:25241135-25241597	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr10:25240578-25242391	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:25241086-25242108	A549	lung:	n/a	n/a
5	YY1	chr10:25241328-25241636	SK-N-SH	brain:	n/a	n/a
6	MAX	chr10:25240852-25242106	GM12878	blood:	n/a	n/a
7	CTCF	chr10:25241220-25241370	HVMF	connective:	n/a	n/a
8	RCOR1	chr10:25241139-25241468	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr10:25241279-25242084	ECC-1	luminal epithelium:	n/a	chr10:25241694-25241703
10	POLR2A	chr10:25241076-25242194	A549	lung:	n/a	n/a
11	NFIC	chr10:25241088-25241402	GM12878	blood:	n/a	n/a
12	YY1	chr10:25241323-25241569	GM12892	blood:	n/a	n/a
13	CEBPB	chr10:25241099-25241469	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	POLR2A	chr10:25240181-25244662	K562	blood:	n/a	n/a
16	CTCF	chr10:25241156-25242031	GM12878	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
17	BHLHE40	chr10:25240622-25242272	GM12878	blood:	n/a	chr10:25241832-25241848 chr10:25241803-25241819 chr10:25241723-25241739 chr10:25241792-25241808
18	RCOR1	chr10:25241223-25241353	GM12878	blood:	n/a	n/a
19	CEBPB	chr10:25241215-25241415	K562	blood:	n/a	n/a
20	POLR2A	chr10:25241097-25242083	A549	lung:	n/a	n/a
21	TAF1	chr10:25241303-25241660	SK-N-SH	brain:	n/a	n/a
22	UBTF	chr10:25240562-25242561	K562	blood:	n/a	n/a
23	CHD1	chr10:25241037-25241874	GM12878	blood:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
24	MYC	chr10:25241216-25241593	MCF-7	breast:	n/a	n/a
25	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
26	MAX	chr10:25240488-25242348	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr10:25240350-25242595	K562	blood:	n/a	n/a
28	POLR2A	chr10:25240548-25242157	Gliobla	brain:	n/a	n/a
29	CHD2	chr10:25241080-25242215	Hela-S3	cervix:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
30	ZNF143	chr10:25240297-25242230	H1-hESC	embryonic stem cell:	n/a	chr10:25240833-25240851 chr10:25241686-25241696
31	HMGN3	chr10:25240572-25242067	K562	blood:	n/a	n/a
32	POLR2A	chr10:25240291-25242512	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	UBTF	chr10:25240600-25242563	K562	blood:	n/a	n/a
35	POLR2A	chr10:25241167-25241599	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:25241294-25242149	SK-N-MC	brain:	n/a	n/a
37	ZMIZ1	chr10:25240569-25242628	K562	blood:	n/a	n/a
38	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
39	POLR2A	chr10:25240583-25242147	GM19099	blood:	n/a	n/a
40	MYC	chr10:25240599-25242486	K562	blood:	n/a	n/a
41	MAX	chr10:25241251-25241667	MCF-7	breast:	n/a	n/a
42	POLR2A	chr10:25240175-25242598	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr10:25241254-25242131	A549	lung:	n/a	chr10:25241700-25241710 chr10:25241806-25241819 chr10:25241805-25241817 chr10:25241803-25241822 chr10:25241807-25241817
44	SMC3	chr10:25240491-25242275	Hela-S3	cervix:	n/a	chr10:25241807-25241821 chr10:25241807-25241817
45	STAT1	chr10:25241201-25241346	GM12878	blood:	n/a	chr10:25241285-25241297
46	CHD2	chr10:25240555-25242218	K562	blood:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
47	POLR2A	chr10:25239865-25243383	GM12878	blood:	n/a	n/a
48	CTCF	chr10:25241300-25241450	BE2_C	brain:	n/a	n/a
49	TAF1	chr10:25241240-25241657	K562	blood:	n/a	n/a
50	CREB1	chr10:25241313-25241698	A549	lung:	n/a	n/a

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	chr10:25009845..25014059-chr10:25240930..25243462,5	MCF-7	breast:
4	chr10:25009082..25014020-chr10:25238727..25242865,5	K562	blood:
5	chr10:25239754..25241501-chr10:25279969..25281607,2	K562	blood:
6	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THNSL1-4	chr10:25241300-25241377	NONHSAT011795

Variant related genes	Relation type
ENSG00000273107	TF binding region
ENSG00000185875	Chromatin interaction
ENSG00000151023	Chromatin interaction
ENSG00000107863	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25237400-25241400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:25240000-25241400	Enhancers	Fetal Heart	heart
3	chr10:25240200-25243000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:25240400-25242600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr10:25240400-25242600	Flanking Active TSS	Dnd41	blood
6	chr10:25240600-25241400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:25240600-25241400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:25240600-25241400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr10:25240600-25241400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:25240600-25241400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:25240600-25241400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr10:25240600-25241400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr10:25240600-25241400	Flanking Active TSS	GM12878-XiMat	blood
14	chr10:25240600-25241400	Flanking Active TSS	Osteobl	bone
15	chr10:25240600-25241600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:25240600-25241600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:25240600-25242400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:25240600-25242400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:25240600-25242400	Active TSS	Rectal Smooth Muscle	rectum
20	chr10:25240600-25242600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:25240600-25242600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr10:25240600-25242600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr10:25240800-25241400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr10:25240800-25241400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr10:25240800-25241400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr10:25240800-25241400	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr10:25240800-25241600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr10:25240800-25241800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:25240800-25241800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:25240800-25241800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr10:25240800-25242000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr10:25240800-25242000	Active TSS	Brain Angular Gyrus	brain
33	chr10:25240800-25242000	Active TSS	Brain Substantia Nigra	brain
34	chr10:25240800-25242200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:25240800-25242200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:25240800-25242200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:25240800-25242200	Active TSS	Fetal Kidney	kidney
38	chr10:25240800-25242200	Active TSS	Fetal Lung	lung
39	chr10:25240800-25242200	Active TSS	Hela-S3	cervix
40	chr10:25240800-25242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:25240800-25242600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr10:25240800-25242600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:25241000-25241400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:25241000-25241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr10:25241000-25241400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr10:25241000-25241400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:25241000-25241400	Flanking Active TSS	Liver	Liver
48	chr10:25241000-25241400	Flanking Active TSS	Right Ventricle	heart
49	chr10:25241000-25241400	Flanking Active TSS	Thymus	Thymus
50	chr10:25241000-25241600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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