Variant report

Variant	esv1817721
Chromosome Location	chr22:32758417-32770340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:427)
Chromatin interactive
region (count:23)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:32761645-32761686	HepG2	liver:	n/a	chr22:32761653-32761666
2	CTCF	chr22:32763300-32763450	GM12869	blood:	n/a	n/a
3	FAM48A	chr22:32769015-32769198	GM12878	blood:	n/a	n/a
4	JUND	chr22:32763125-32763314	HepG2	liver:	n/a	n/a
5	MYC	chr22:32769832-32769934	MCF-7	breast:	n/a	n/a
6	MYC	chr22:32765330-32765340	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr22:32765247-32765326	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr22:32765343-32765352	H1-hESC	embryonic stem cell:	n/a	n/a
9	NRF1	chr22:32764668-32764673	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:32763414-32763430	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:32759280-32759378	A549	lung:	n/a	n/a
12	POLR2A	chr22:32763346-32763396	GM12878	blood:	n/a	n/a
13	RFX5	chr22:32763339-32763429	Hela-S3	cervix:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32767094-32767144	Jurkat	blood:	n/a
2	chr22:32767128-32767178	NHBE	bronchial:	n/a
3	chr22:32767128-32767178	NH-A	brain:	n/a
4	chr22:32767162-32767212	MCF10A-Er-Src	breast:	n/a
5	chr22:32767648-32767698	HNPCEpiC	eye:	n/a
6	chr22:32767005-32767055	PANC-1	pancreas:	n/a
7	chr22:32767094-32767144	T-47D	breast:	n/a
8	chr22:32768291-32768341	AG04450	lung:	fetal
9	chr22:32768114-32768164	CMK	blood:	n/a
10	chr22:32767005-32767055	HCM	heart:	n/a
11	chr22:32768114-32768164	ECC-1	luminal epithelium:	n/a
12	chr22:32767128-32767178	HCF	heart:	n/a
13	chr22:32767162-32767212	SK-N-SH_RA	brain:	n/a
14	chr22:32768291-32768341	GM19239	blood:	n/a
15	chr22:32767128-32767178	SKMC	muscle:	n/a
16	chr22:32767162-32767212	Hela-S3	cervix:	n/a
17	chr22:32767648-32767698	LNCaP	prostate:	n/a
18	chr22:32767128-32767178	PANC-1	pancreas:	n/a
19	chr22:32768291-32768341	BJ	skin:	n/a
20	chr22:32768114-32768164	HRE	kidney:	n/a
21	chr22:32767005-32767055	NH-A	brain:	n/a
22	chr22:32767648-32767698	K562	blood:	n/a
23	chr22:32767162-32767212	ProgFib	skin:	n/a
24	chr22:32767648-32767698	AG04449	skin:	fetal
25	chr22:32767094-32767144	GM06990	blood:	n/a
26	chr22:32767005-32767055	A549	lung:	n/a
27	chr22:32767094-32767144	GM19239	blood:	n/a
28	chr22:32768114-32768164	HRPEpiC	eye:	n/a
29	chr22:32768114-32768164	LNCaP	prostate:	n/a
30	chr22:32767128-32767178	RPTEC	kidney:	n/a
31	chr22:32768291-32768341	HNPCEpiC	eye:	n/a
32	chr22:32768114-32768164	NH-A	brain:	n/a
33	chr22:32767005-32767055	BE2_C	brain:	n/a
34	chr22:32767128-32767178	MCF10A-Er-Src	breast:	n/a
35	chr22:32767162-32767212	GM12892	blood:	n/a
36	chr22:32768291-32768341	ovcar-3	ovarian:	n/a
37	chr22:32768114-32768164	NHDF-neo	bronchial:	n/a
38	chr22:32767162-32767212	HMEC	breast:	n/a
39	chr22:32768114-32768164	BJ	skin:	n/a
40	chr22:32767648-32767698	SK-N-SH	brain:	n/a
41	chr22:32767005-32767055	AG10803	skin:	n/a
42	chr22:32767128-32767178	NT2-D1	testis:	n/a
43	chr22:32767094-32767144	HCT-116	colon:	n/a
44	chr22:32767005-32767055	MCF10A-Er-Src	breast:	n/a
45	chr22:32767128-32767178	GM12878	blood:	n/a
46	chr22:32768291-32768341	NHBE	bronchial:	n/a
47	chr22:32768291-32768341	GM12891	blood:	n/a
48	chr22:32767094-32767144	NB4	blood:	n/a
49	chr22:32768291-32768341	NH-A	brain:	n/a
50	chr22:32768114-32768164	PFSK-1	brain:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31936958-31958600..22:32764253-32784733	K562	blood:
2	22:32053085-32061138..22:32761732-32763368	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32284948-32287956..22:32750950-32761732	K562	blood:
5	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
6	22:32360288-32405313..22:32764253-32784733	K562	blood:
7	22:31936958-31958600..22:32750950-32761732	Hela-S3	cervix:
8	22:32170492-32188129..22:32761732-32763368	K562	blood:
9	22:31864703-31891033..22:32761732-32763368	K562	blood:
10	22:32264718-32278135..22:32761732-32763368	K562	blood:
11	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
12	22:32162110-32166713..22:32761732-32763368	K562	blood:
13	22:32529813-32538538..22:32750950-32761732	K562	blood:
14	22:32750950-32761732..22:32761732-32763368	K562	blood:
15	22:32761732-32763368..22:33262063-33266567	K562	blood:
16	22:32096851-32100847..22:32761732-32763368	K562	blood:
17	22:32338420-32342898..22:32761732-32763368	K562	blood:
18	22:32740683-32750950..22:32761732-32763368	K562	blood:
19	22:32360288-32405313..22:32750950-32761732	K562	blood:
20	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
21	22:31829733-31836635..22:32764253-32784733	K562	blood:
22	22:31961151-31976153..22:32761732-32763368	K562	blood:
23	22:32665993-32670527..22:32750950-32761732	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf28-1	chr22:32763677-32763701	NR_002596
2	lnc-C22orf28-1	chr22:32766886-32767063	NR_002596
3	lnc-C22orf28-1	chr22:32764484-32764554	NR_002596
4	lnc-C22orf28-1	chr22:32766886-32766928	NR_104232
5	lnc-C22orf28-1	chr22:32763677-32763701	NR_104232
6	lnc-C22orf28-1	chr22:32763677-32763701	NR_001450
7	lnc-C22orf28-1	chr22:32764484-32764554	NR_104232
8	lnc-C22orf28-1	chr22:32767185-32767251	NR_104232
9	lnc-C22orf28-1	chr22:32758959-32759104	NONHSAT084964
10	lnc-C22orf28-1	chr22:32764484-32764554	NR_001450
11	lnc-C22orf28-1	chr22:32766886-32767063	NR_001450
12	lnc-C22orf28-1	chr22:32758959-32759045	NR_002596

No data

Variant related genes	Relation type
ENSG00000230736	TF binding region
RFPL3S	TF binding region
IGLVIVOR22-2	TF binding region
ENSG00000230736	CpG island
RFPL3S	CpG island
IGLVIVOR22-2	CpG island
ENSG00000183531	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000183530	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000224050	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000227813	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000128245	chromatin interactions

Extended variants
information (count: 484 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5754018	chr22:32758417-32758418	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201732060	chr22:32758421-32758422	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs141902568	chr22:32758461-32758462	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs374600030	chr22:32758462-32758463	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs371965419	chr22:32758463-32758464	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs367914443	chr22:32758464-32758465	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs371537133	chr22:32758472-32758473	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs529395738	chr22:32758473-32758474	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs200972503	chr22:32758505-32758506	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs73166368	chr22:32758589-32758590	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570978188	chr22:32758724-32758725	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs191178795	chr22:32758731-32758732	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs551303501	chr22:32758736-32758737	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs149736014	chr22:32758792-32758793	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs11913841	chr22:32758843-32758844	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs16990250	chr22:32758885-32758886	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs539453061	chr22:32758959-32758960	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs7289201	chr22:32758971-32758972	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs566541676	chr22:32758977-32758978	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs535232850	chr22:32759011-32759012	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
21	rs555921498	chr22:32759013-32759014	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs5998440	chr22:32759025-32759026	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs544457100	chr22:32759055-32759056	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs58900434	chr22:32759056-32759057	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs558040041	chr22:32759091-32759092	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs577583083	chr22:32759135-32759136	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs540254273	chr22:32759139-32759140	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs560317728	chr22:32759179-32759180	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs529378564	chr22:32759213-32759214	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs77729237	chr22:32759236-32759237	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs561874639	chr22:32759238-32759239	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs5754019	chr22:32759257-32759258	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs5998441	chr22:32759267-32759268	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117269940	chr22:32759278-32759279	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
35	rs144631591	chr22:32759284-32759285	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs45593940	chr22:32759289-32759290	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs566386638	chr22:32759314-32759315	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs5754020	chr22:32759324-32759325	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555176419	chr22:32759347-32759348	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs184765409	chr22:32759392-32759393	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs5754021	chr22:32759393-32759394	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs189465423	chr22:32759432-32759433	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs577899971	chr22:32759459-32759460	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs5754022	chr22:32759491-32759492	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs140012965	chr22:32759508-32759509	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs554131370	chr22:32759543-32759544	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs543839558	chr22:32759553-32759554	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs5754023	chr22:32759600-32759601	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs543067214	chr22:32759607-32759608	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs562857151	chr22:32759626-32759627	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32760000-32760600	Enhancers	Duodenum Mucosa	Duodenum
3	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
4	chr22:32767000-32767600	Active TSS	Placenta	Placenta

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