Variant report

Variant	rs577358672
Chromosome Location	chr10:23003623-23003624
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	FOXP2	chr10:23003193-23003906	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr10:23001941-23004344	GM12892	blood:	n/a	n/a
3	MXI1	chr10:23000923-23004170	SK-N-SH	brain:	n/a	n/a
4	TAF1	chr10:23003301-23003653	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:23002047-23003977	GM12878	blood:	n/a	n/a
6	MAZ	chr10:23001569-23004394	IMR90	lung:	n/a	n/a
7	POLR2A	chr10:23001201-23004277	GM18505	blood:	n/a	n/a
8	TAF1	chr10:23003259-23003803	K562	blood:	n/a	n/a
9	POLR2A	chr10:23001832-23004525	GM12892	blood:	n/a	n/a
10	MXI1	chr10:23003463-23003880	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr10:23003428-23004129	H1-hESC	embryonic stem cell:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
12	POLR2A	chr10:23003115-23003894	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr10:23003124-23003903	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr10:23002861-23003722	H1-neurons	neurons:	n/a	n/a
15	MAX	chr10:23003372-23004024	K562	blood:	n/a	n/a
16	YY1	chr10:23003125-23003844	GM12891	blood:	n/a	chr10:23003683-23003697 chr10:23003780-23003791
17	TAF1	chr10:23003346-23003761	HepG2	liver:	n/a	n/a
18	TEAD4	chr10:23003359-23003658	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr10:23003143-23003929	K562	blood:	n/a	chr10:23003685-23003701 chr10:23003321-23003337
20	POLR2A	chr10:23003174-23003876	HEK293	kidney:	n/a	n/a
21	BHLHE40	chr10:23002959-23004372	K562	blood:	n/a	chr10:23003671-23003687 chr10:23003674-23003690 chr10:23003663-23003679 chr10:23003492-23003508 chr10:23003020-23003036
22	E2F4	chr10:23002067-23003936	K562	blood:	n/a	chr10:23003655-23003667 chr10:23003654-23003665
23	MYC	chr10:23001139-23004066	K562	blood:	n/a	n/a
24	POLR2A	chr10:23001700-23004437	GM19099	blood:	n/a	n/a
25	CREB1	chr10:23003386-23003775	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr10:23003325-23003776	HepG2	liver:	n/a	chr10:23003508-23003523 chr10:23003668-23003683
27	ELF1	chr10:23003280-23003795	SK-N-SH	brain:	n/a	chr10:23003289-23003301 chr10:23003662-23003674 chr10:23003346-23003355
28	MAX	chr10:23003368-23003976	Hela-S3	cervix:	n/a	n/a
29	YY1	chr10:23003394-23003891	K562	blood:	n/a	chr10:23003683-23003697 chr10:23003780-23003791
30	RAD21	chr10:23003345-23003640	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:23002885-23003864	GM12891	blood:	n/a	n/a
32	POLR2A	chr10:23003438-23003880	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr10:23003103-23003951	ProgFib	skin:	n/a	n/a
34	TCF3	chr10:23002849-23003927	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:23002016-23004252	GM19193	blood:	n/a	n/a
36	POLR2A	chr10:23002906-23003961	K562	blood:	n/a	n/a
37	POLR2A	chr10:23003575-23003807	GM12891	blood:	n/a	n/a
38	UBTF	chr10:23001641-23003979	K562	blood:	n/a	n/a
39	E2F6	chr10:23003413-23004201	H1-hESC	embryonic stem cell:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
40	YY1	chr10:23003338-23003641	K562	blood:	n/a	n/a
41	MAX	chr10:23003355-23004140	K562	blood:	n/a	n/a
42	CREB1	chr10:23003384-23003816	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr10:23003355-23004196	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr10:23003359-23003758	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr10:23003489-23003901	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr10:23003277-23003861	HCT-116	colon:	n/a	n/a
47	POLR2A	chr10:23003195-23003841	IMR90	lung:	n/a	n/a
48	RELA	chr10:23003060-23004030	GM10847	blood:	n/a	n/a
49	YY1	chr10:23002862-23003843	GM12878	blood:	n/a	chr10:23002962-23002973 chr10:23003683-23003697 chr10:23003780-23003791
50	POLR2A	chr10:23003016-23003947	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22862798..22864758-chr10:23003498..23006178,2	K562	blood:
2	chr10:23003493..23005808-chr10:23014761..23017222,2	MCF-7	breast:
3	chr10:22979232..22981528-chr10:23001469..23003745,3	MCF-7	breast:
4	chr1:45987303..45987848-chr10:23003029..23003739,2	HCT-116	colon:
5	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000168283	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000269897	Chromatin interaction
ENSG00000150867	Chromatin interaction
ENSG00000148444	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330079	chr10:23002696-23004844	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22997400-23003800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr10:22998600-23003800	Active TSS	Brain Hippocampus Middle	brain
3	chr10:22999000-23003800	Active TSS	Brain Substantia Nigra	brain
4	chr10:22999400-23004000	Active TSS	Brain Angular Gyrus	brain
5	chr10:23000000-23003800	Active TSS	Brain Cingulate Gyrus	brain
6	chr10:23000200-23003800	Active TSS	Primary T cells fromperipheralblood	blood
7	chr10:23000200-23003800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:23000400-23003800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:23000400-23004000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:23000400-23004000	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr10:23000400-23004200	Active TSS	Aorta	Aorta
12	chr10:23000600-23003800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:23000600-23003800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr10:23000600-23004000	Active TSS	Brain Anterior Caudate	brain
15	chr10:23000600-23004000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:23000800-23003800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:23000800-23003800	Active TSS	GM12878-XiMat	blood
18	chr10:23000800-23004000	Active TSS	Right Atrium	heart
19	chr10:23001000-23003800	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr10:23001000-23003800	Active TSS	Fetal Thymus	thymus
21	chr10:23001000-23004000	Active TSS	NHDF-Ad	bronchial
22	chr10:23001000-23004000	Active TSS	NHLF	lung
23	chr10:23001000-23004400	Active TSS	Rectal Smooth Muscle	rectum
24	chr10:23001200-23003800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:23001200-23003800	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr10:23001200-23003800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr10:23001200-23003800	Active TSS	HepG2	liver
28	chr10:23001200-23004200	Active TSS	Fetal Kidney	kidney
29	chr10:23001400-23003800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:23001400-23003800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:23001400-23004200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr10:23001400-23004400	Active TSS	HSMMtube	muscle
33	chr10:23001600-23003800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:23001600-23003800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr10:23001600-23003800	Active TSS	Fetal Muscle Trunk	muscle
36	chr10:23001600-23003800	Active TSS	Placenta	Placenta
37	chr10:23001600-23003800	Active TSS	Left Ventricle	heart
38	chr10:23001600-23004000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr10:23001600-23004000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:23001600-23004000	Active TSS	Lung	lung
41	chr10:23001600-23004000	Active TSS	Ovary	ovary
42	chr10:23001600-23004000	Active TSS	Right Ventricle	heart
43	chr10:23001800-23003800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:23001800-23003800	Active TSS	Esophagus	oesophagus
45	chr10:23001800-23003800	Active TSS	Fetal Brain Female	brain
46	chr10:23001800-23003800	Active TSS	Gastric	stomach
47	chr10:23001800-23003800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr10:23001800-23003800	Active TSS	Stomach Smooth Muscle	stomach
49	chr10:23001800-23003800	Active TSS	Spleen	Spleen
50	chr10:23001800-23004200	Active TSS	HSMM	muscle

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