Variant report

Variant	rs530328449
Chromosome Location	chr10:25241844-25241845
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	CTCF	chr10:25241700-25241850	SAEC	small airway:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
2	POLR2A	chr10:25240578-25242391	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:25241760-25241910	GM12873	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
4	BACH1	chr10:25241844-25242330	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:25241086-25242108	A549	lung:	n/a	n/a
6	CTCF	chr10:25241760-25241910	GM12866	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
7	CTCF	chr10:25241684-25241953	MCF-7	breast:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
8	MAX	chr10:25240852-25242106	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr10:25241279-25242084	ECC-1	luminal epithelium:	n/a	chr10:25241694-25241703
10	MAX	chr10:25241705-25242294	K562	blood:	n/a	n/a
11	CTCF	chr10:25241695-25241964	GM12891	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
12	JUND	chr10:25241819-25242246	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr10:25241760-25241910	HUVEC	blood vessel:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
14	CTCF	chr10:25241739-25241911	Medullo	brain:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
15	CTCF	chr10:25241840-25241990	BJ	skin:	n/a	n/a
16	POLR2A	chr10:25241076-25242194	A549	lung:	n/a	n/a
17	CTCF	chr10:25241760-25241910	K562	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
18	CTCF	chr10:25241700-25241850	HA-sp	spinal cord:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
19	CTCF	chr10:25241760-25241910	BE2_C	brain:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
20	EGR1	chr10:25241579-25242255	H1-hESC	embryonic stem cell:	n/a	chr10:25241695-25241705 chr10:25241841-25241851 chr10:25241694-25241707 chr10:25241715-25241728 chr10:25241803-25241817
21	ELF1	chr10:25241574-25241926	GM12878	blood:	n/a	chr10:25241802-25241811 chr10:25241835-25241847 chr10:25241869-25241882
22	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
23	CTCF	chr10:25241780-25241930	GM12872	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
24	POLR2A	chr10:25240181-25244662	K562	blood:	n/a	n/a
25	CTCF	chr10:25241156-25242031	GM12878	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
26	CTCF	chr10:25241692-25241963	GM19238	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
27	REST	chr10:25241649-25242092	K562	blood:	n/a	chr10:25241832-25241842
28	CTCF	chr10:25241720-25241870	GM12870	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
29	BHLHE40	chr10:25240622-25242272	GM12878	blood:	n/a	chr10:25241832-25241848 chr10:25241803-25241819 chr10:25241723-25241739 chr10:25241792-25241808
30	CTCF	chr10:25241800-25241950	HCPEpiC	choroid plexus:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
31	CTCF	chr10:25241800-25241950	GM12866	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
32	POLR2A	chr10:25241792-25242226	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr10:25241562-25242028	K562	blood:	n/a	chr10:25241802-25241811 chr10:25241835-25241847 chr10:25241869-25241882
34	POLR2A	chr10:25241097-25242083	A549	lung:	n/a	n/a
35	CEBPB	chr10:25241822-25241934	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr10:25241639-25242110	MCF-7	breast:	n/a	n/a
37	UBTF	chr10:25240562-25242561	K562	blood:	n/a	n/a
38	POLR2A	chr10:25241812-25242058	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr10:25241760-25241910	Caco-2	colon:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
40	CTCF	chr10:25241800-25241950	HPAF	blood vessel:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
41	CTCF	chr10:25241780-25241930	GM12878	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
42	CTCF	chr10:25241369-25242065	K562	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
43	CHD1	chr10:25241037-25241874	GM12878	blood:	n/a	chr10:25241723-25241733 chr10:25241285-25241295
44	CTCF	chr10:25241740-25241890	GM12875	blood:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
45	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
46	CTCF	chr10:25241740-25241890	HRPEpiC	eye:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
47	CTCF	chr10:25241780-25241930	HCM	heart:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820
48	YY1	chr10:25241642-25241876	GM12891	blood:	n/a	chr10:25241842-25241851 chr10:25241803-25241817 chr10:25241837-25241851 chr10:25241805-25241814 chr10:25241797-25241811 chr10:25241834-25241848 chr10:25241714-25241723 chr10:25241802-25241811
49	MAX	chr10:25240488-25242348	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr10:25241720-25241870	HPF	lung:	n/a	chr10:25241805-25241823 chr10:25241806-25241822 chr10:25241807-25241820

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	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:

Variant related genes	Relation type
PRTFDC1	TF binding region
ENSG00000273107	TF binding region
ENSG00000151023	Chromatin interaction
ENSG00000107863	Chromatin interaction
ENSG00000185875	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	chr10:25240200-25243000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:25240400-25242600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:25240400-25242600	Flanking Active TSS	Dnd41	blood
4	chr10:25240600-25242400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:25240600-25242400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr10:25240600-25242400	Active TSS	Rectal Smooth Muscle	rectum
7	chr10:25240600-25242600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:25240600-25242600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr10:25240600-25242600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:25240800-25242000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr10:25240800-25242000	Active TSS	Brain Angular Gyrus	brain
12	chr10:25240800-25242000	Active TSS	Brain Substantia Nigra	brain
13	chr10:25240800-25242200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:25240800-25242200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr10:25240800-25242200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:25240800-25242200	Active TSS	Fetal Kidney	kidney
17	chr10:25240800-25242200	Active TSS	Fetal Lung	lung
18	chr10:25240800-25242200	Active TSS	Hela-S3	cervix
19	chr10:25240800-25242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:25240800-25242600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:25240800-25242600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:25241000-25242000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:25241000-25242000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr10:25241000-25242000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:25241000-25242000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:25241000-25242000	Active TSS	Brain Anterior Caudate	brain
27	chr10:25241000-25242000	Active TSS	Brain Cingulate Gyrus	brain
28	chr10:25241000-25242000	Active TSS	Brain Hippocampus Middle	brain
29	chr10:25241000-25242000	Active TSS	Colon Smooth Muscle	Colon
30	chr10:25241000-25242000	Active TSS	Duodenum Mucosa	Duodenum
31	chr10:25241000-25242000	Enhancers	Fetal Brain Male	brain
32	chr10:25241000-25242000	Active TSS	Fetal Brain Female	brain
33	chr10:25241000-25242000	Active TSS	Fetal Intestine Large	intestine
34	chr10:25241000-25242000	Active TSS	Fetal Stomach	stomach
35	chr10:25241000-25242000	Active TSS	Gastric	stomach
36	chr10:25241000-25242000	Active TSS	Pancreas	Pancrea
37	chr10:25241000-25242000	Active TSS	Psoas Muscle	Psoas
38	chr10:25241000-25242000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr10:25241000-25242000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:25241000-25242000	Active TSS	A549	lung
41	chr10:25241000-25242000	Active TSS	K562	blood
42	chr10:25241000-25242200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:25241000-25242200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:25241000-25242200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr10:25241000-25242200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr10:25241000-25242200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr10:25241000-25242200	Active TSS	Aorta	Aorta
48	chr10:25241000-25242200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr10:25241000-25242200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:25241000-25242200	Active TSS	Fetal Intestine Small	intestine

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