Variant report

Variant	rs370311646
Chromosome Location	chr10:49732383-49732384
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	MAX	chr10:49732277-49732734	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr10:49732285-49732630	K562	blood:	n/a	n/a
3	POLR2A	chr10:49732239-49732558	HL-60	blood:	n/a	n/a
4	TCF12	chr10:49732316-49732558	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr10:49731514-49732630	K562	blood:	n/a	chr10:49731682-49731697 chr10:49731668-49731683
6	BHLHE40	chr10:49731803-49732672	K562	blood:	n/a	chr10:49732501-49732517
7	ETS1	chr10:49731929-49732603	K562	blood:	n/a	chr10:49732274-49732287
8	POLR2A	chr10:49732306-49732580	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr10:49732303-49732630	SK-N-SH_RA	brain:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
10	TBP	chr10:49732242-49732532	H1-hESC	embryonic stem cell:	n/a	n/a
11	ETS1	chr10:49732252-49732692	K562	blood:	n/a	chr10:49732274-49732287
12	TCF12	chr10:49731155-49732729	ECC-1	luminal epithelium:	n/a	chr10:49731994-49732001 chr10:49731964-49731971
13	TBP	chr10:49731194-49732656	K562	blood:	n/a	n/a
14	POLR2A	chr10:49731277-49732820	K562	blood:	n/a	n/a
15	RCOR1	chr10:49732300-49732646	K562	blood:	n/a	n/a
16	CTCF	chr10:49732380-49732530	Hela-S3	cervix:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
17	POLR2A	chr10:49732381-49732552	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr10:49732263-49732654	K562	blood:	n/a	n/a
19	POLR2A	chr10:49731359-49732589	HEK293	kidney:	n/a	n/a
20	CTCF	chr10:49732380-49732530	AG04450	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
21	CTCF	chr10:49732360-49732510	A549	lung:	n/a	n/a
22	CTCF	chr10:49732250-49732731	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
23	CTCFL	chr10:49732348-49732642	K562	blood:	n/a	chr10:49732511-49732520
24	ZBTB7A	chr10:49732253-49732875	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
25	GTF2F1	chr10:49732266-49732677	K562	blood:	n/a	n/a
26	POLR2A	chr10:49731300-49732712	K562	blood:	n/a	n/a
27	E2F6	chr10:49732283-49732636	K562	blood:	n/a	chr10:49732609-49732623
28	ZBTB7A	chr10:49732356-49732758	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
29	POLR2A	chr10:49731349-49732598	K562	blood:	n/a	n/a
30	CTCF	chr10:49732360-49732510	HCM	heart:	n/a	n/a
31	ELF1	chr10:49732274-49732597	K562	blood:	n/a	n/a
32	POLR2A	chr10:49732351-49732503	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr10:49732230-49732697	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:49732361-49732660	GM12891	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
35	MAX	chr10:49731726-49732681	A549	lung:	n/a	n/a
36	YY1	chr10:49732184-49732672	H1-hESC	embryonic stem cell:	n/a	chr10:49732302-49732313 chr10:49732486-49732500 chr10:49732444-49732458 chr10:49732524-49732538
37	E2F4	chr10:49732085-49732664	K562	blood:	n/a	chr10:49732609-49732623
38	MAX	chr10:49731680-49732676	K562	blood:	n/a	n/a
39	CTCF	chr10:49732330-49732937	A549	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
40	HEY1	chr10:49731899-49732637	K562	blood:	n/a	n/a
41	SMC3	chr10:49731882-49732922	SK-N-SH	brain:	n/a	chr10:49732510-49732520 chr10:49732500-49732510 chr10:49732506-49732520
42	MAX	chr10:49731203-49732626	ECC-1	luminal epithelium:	n/a	n/a
43	TEAD4	chr10:49732261-49732680	K562	blood:	n/a	n/a
44	MYC	chr10:49730896-49732567	K562	blood:	n/a	n/a
45	POLR2A	chr10:49732225-49732548	K562	blood:	n/a	n/a
46	CTCF	chr10:49732208-49732716	H1-hESC	embryonic stem cell:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732244-49732257 chr10:49732507-49732520
47	SIN3A	chr10:49731186-49732669	H1-hESC	embryonic stem cell:	n/a	chr10:49731784-49731797 chr10:49732244-49732255
48	CTCF	chr10:49732341-49732632	A549	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
49	CTCF	chr10:49732368-49732651	NHEK	skin:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
50	CTCF	chr10:49732372-49732608	HepG2	liver:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
2	chr10:49732304..49732912-chr4:153699693..153700213,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3392447	chr10:49731171-49733719	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:49731000-49732400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr10:49731200-49732400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:49731200-49732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:49731200-49732600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:49731200-49732600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:49731200-49732600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr10:49731200-49732600	Active TSS	Aorta	Aorta
10	chr10:49731200-49732600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr10:49731200-49732800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:49731400-49732400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:49731400-49732400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:49731400-49732400	Active TSS	Left Ventricle	heart
15	chr10:49731400-49732400	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr10:49731400-49732400	Active TSS	Rectal Smooth Muscle	rectum
17	chr10:49731400-49732400	Active TSS	NH-A	brain
18	chr10:49731400-49732600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:49731400-49732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:49731400-49732600	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr10:49731400-49732600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr10:49731400-49732600	Bivalent/Poised TSS	Thymus	Thymus
23	chr10:49731400-49732600	Active TSS	NHLF	lung
24	chr10:49731400-49732800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr10:49731400-49732800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:49731400-49732800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:49731400-49732800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:49731400-49732800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr10:49731400-49732800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr10:49731400-49732800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr10:49731400-49732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr10:49731400-49732800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:49731400-49732800	Active TSS	Ovary	ovary
34	chr10:49731400-49732800	Active TSS	A549	lung
35	chr10:49731600-49732400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr10:49731600-49732400	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr10:49731600-49732400	Active TSS	Brain Anterior Caudate	brain
38	chr10:49731600-49732400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr10:49731600-49732400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr10:49731600-49732600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:49731600-49732600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:49731600-49732600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:49731600-49732600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr10:49731600-49732600	Bivalent/Poised TSS	HepG2	liver
45	chr10:49731600-49732600	Active TSS	HSMM	muscle
46	chr10:49731600-49732600	Active TSS	Osteobl	bone
47	chr10:49731600-49733000	Active TSS	K562	blood
48	chr10:49731600-49734200	Weak transcription	Fetal Kidney	kidney
49	chr10:49731600-49734200	Weak transcription	Fetal Lung	lung
50	chr10:49731800-49732400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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