Variant report

Variant	rs575402117
Chromosome Location	chr10:49732590-49732591
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	CTCF	chr10:49732411-49732594	MCF-7	breast:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
4	CTCF	chr10:49732480-49732630	BJ	skin:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
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	CTCF	chr10:49732500-49732650	GM12873	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
8	CTCF	chr10:49732480-49732630	NHEK	skin:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
9	CTCF	chr10:49732443-49732598	HUVEC	blood vessel:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
10	ETS1	chr10:49731929-49732603	K562	blood:	n/a	chr10:49732274-49732287
11	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
12	CTCF	chr10:49732389-49732636	GM19238	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
13	CTCF	chr10:49732394-49732603	GM10248	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
14	CTCF	chr10:49732460-49732610	GM12878	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
15	ETS1	chr10:49732252-49732692	K562	blood:	n/a	chr10:49732274-49732287
16	TCF12	chr10:49731155-49732729	ECC-1	luminal epithelium:	n/a	chr10:49731994-49732001 chr10:49731964-49731971
17	TBP	chr10:49731194-49732656	K562	blood:	n/a	n/a
18	POLR2A	chr10:49731277-49732820	K562	blood:	n/a	n/a
19	RCOR1	chr10:49732300-49732646	K562	blood:	n/a	n/a
20	CTCF	chr10:49732460-49732610	GM06990	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
21	CTCF	chr10:49732385-49732601	HepG2	liver:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
22	HDAC2	chr10:49732263-49732654	K562	blood:	n/a	n/a
23	CTCF	chr10:49732440-49732590	AoAF	blood vessel:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
24	CTCF	chr10:49732460-49732610	WERI-Rb-1	eye:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
25	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
26	CTCF	chr10:49732460-49732610	GM12875	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
27	CTCFL	chr10:49732348-49732642	K562	blood:	n/a	chr10:49732511-49732520
28	CTCF	chr10:49732460-49732610	HBMEC	blood vessel:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
29	POLR2A	chr10:49732506-49735617	U87	brain:	n/a	n/a
30	ZBTB7A	chr10:49732253-49732875	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
31	GTF2F1	chr10:49732266-49732677	K562	blood:	n/a	n/a
32	POLR2A	chr10:49731300-49732712	K562	blood:	n/a	n/a
33	E2F6	chr10:49732283-49732636	K562	blood:	n/a	chr10:49732609-49732623
34	CTCF	chr10:49732421-49732647	GM19239	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
35	ZBTB7A	chr10:49732356-49732758	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
36	POLR2A	chr10:49731349-49732598	K562	blood:	n/a	n/a
37	ELF1	chr10:49732274-49732597	K562	blood:	n/a	n/a
38	CTCF	chr10:49732460-49732610	BJ	skin:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
39	MAX	chr10:49732230-49732697	H1-hESC	embryonic stem cell:	n/a	n/a
40	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
41	MAX	chr10:49731726-49732681	A549	lung:	n/a	n/a
42	CTCF	chr10:49732440-49732590	HRPEpiC	eye:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
43	CTCF	chr10:49732420-49732710	RPTEC	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
44	CTCF	chr10:49732411-49732633	GM12892	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
45	YY1	chr10:49732184-49732672	H1-hESC	embryonic stem cell:	n/a	chr10:49732302-49732313 chr10:49732486-49732500 chr10:49732444-49732458 chr10:49732524-49732538
46	CTCF	chr10:49732480-49732630	GM12870	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
47	E2F4	chr10:49732085-49732664	K562	blood:	n/a	chr10:49732609-49732623
48	MAX	chr10:49731680-49732676	K562	blood:	n/a	n/a
49	CTCF	chr10:49732392-49732614	LNCaP	prostate:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
50	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

No.	Distal block	Cell Line	Cell type
1	chr10:49732450..49736073-chr10:49745484..49747337,3	K562	blood:
2	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
3	chr10:49732429..49733101-chr10:49863990..49864919,5	K562	blood:
4	chr10:49732304..49732912-chr4:153699693..153700213,2	MCF-7	breast:
5	chr10:49639013..49641362-chr10:49732442..49734428,2	K562	blood:

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:82 , 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	chr10:49731200-49732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:49731200-49732600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:49731200-49732600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:49731200-49732600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr10:49731200-49732600	Active TSS	Aorta	Aorta
8	chr10:49731200-49732600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr10:49731200-49732800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:49731400-49732600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:49731400-49732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:49731400-49732600	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr10:49731400-49732600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:49731400-49732600	Bivalent/Poised TSS	Thymus	Thymus
15	chr10:49731400-49732600	Active TSS	NHLF	lung
16	chr10:49731400-49732800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr10:49731400-49732800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:49731400-49732800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr10:49731400-49732800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:49731400-49732800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr10:49731400-49732800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr10:49731400-49732800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr10:49731400-49732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr10:49731400-49732800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr10:49731400-49732800	Active TSS	Ovary	ovary
26	chr10:49731400-49732800	Active TSS	A549	lung
27	chr10:49731600-49732600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:49731600-49732600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:49731600-49732600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:49731600-49732600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr10:49731600-49732600	Bivalent/Poised TSS	HepG2	liver
32	chr10:49731600-49732600	Active TSS	HSMM	muscle
33	chr10:49731600-49732600	Active TSS	Osteobl	bone
34	chr10:49731600-49733000	Active TSS	K562	blood
35	chr10:49731600-49734200	Weak transcription	Fetal Kidney	kidney
36	chr10:49731600-49734200	Weak transcription	Fetal Lung	lung
37	chr10:49731800-49732600	Active TSS	Brain Cingulate Gyrus	brain
38	chr10:49731800-49732600	Active TSS	HUVEC	blood vessel
39	chr10:49731800-49732600	Enhancers	NHDF-Ad	bronchial
40	chr10:49731800-49732800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:49731800-49732800	Active TSS	Brain Angular Gyrus	brain
42	chr10:49731800-49732800	Active TSS	Brain Hippocampus Middle	brain
43	chr10:49731800-49733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:49731800-49733800	Weak transcription	Brain Substantia Nigra	brain
45	chr10:49732000-49732600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:49732000-49732600	Enhancers	HMEC	breast
47	chr10:49732000-49732800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:49732000-49732800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr10:49732000-49732800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr10:49732000-49734000	Weak transcription	Colon Smooth Muscle	Colon

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