Variant report

Variant	nsv979671
Chromosome Location	chr22:32753870-32755199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr22:32754413-32754445	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:32753808-32753924	Gliobla	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32753939-32753989	H1-hESC	embryonic stem cell:	embryo
2	chr22:32753939-32753989	A549	lung:	n/a
3	chr22:32753939-32753989	HCM	heart:	n/a
4	chr22:32753939-32753989	HNPCEpiC	eye:	n/a
5	chr22:32753939-32753989	RPTEC	kidney:	n/a
6	chr22:32753939-32753989	IMR90	lung:	fetal
7	chr22:32753939-32753989	ProgFib	skin:	n/a
8	chr22:32753939-32753989	HCPEpiC	choroid plexus:	n/a
9	chr22:32753939-32753989	HepG2	liver:	n/a
10	chr22:32753939-32753989	SKMC	muscle:	n/a
11	chr22:32753939-32753989	HRCEpiC	kidney:	n/a
12	chr22:32753939-32753989	T-47D	breast:	n/a
13	chr22:32753939-32753989	HMEC	breast:	n/a
14	chr22:32753939-32753989	GM06990	blood:	n/a
15	chr22:32753939-32753989	HIPEpiC	eye:	n/a
16	chr22:32753939-32753989	Jurkat	blood:	n/a
17	chr22:32753939-32753989	AG09319	gingival:	n/a
18	chr22:32753939-32753989	PrEC	prostate:	n/a
19	chr22:32753939-32753989	SK-N-MC	brain:	n/a
20	chr22:32753939-32753989	NH-A	brain:	n/a
21	chr22:32753939-32753989	CMK	blood:	n/a
22	chr22:32753939-32753989	AoSMC	blood vessel:	n/a
23	chr22:32753939-32753989	GM19239	blood:	n/a
24	chr22:32753939-32753989	Hepatocyte	liver:	n/a
25	chr22:32753939-32753989	NHBE	bronchial:	n/a
26	chr22:32753939-32753989	BJ	skin:	n/a
27	chr22:32753939-32753989	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:32753939-32753989	HCF	heart:	n/a
29	chr22:32753939-32753989	AG10803	skin:	n/a
30	chr22:32753939-32753989	HUVEC	blood vessel:	n/a
31	chr22:32753939-32753989	Hela-S3	cervix:	n/a
32	chr22:32753939-32753989	SK-N-SH	brain:	n/a
33	chr22:32753939-32753989	AG04450	lung:	fetal
34	chr22:32753939-32753989	SK-N-SH_RA	brain:	n/a
35	chr22:32753939-32753989	MCF10A-Er-Src	breast:	n/a
36	chr22:32753939-32753989	HEK293	kidney:	embryo
37	chr22:32753939-32753989	NB4	blood:	n/a
38	chr22:32753939-32753989	AG04449	skin:	fetal
39	chr22:32753939-32753989	AG09309	skin:	n/a
40	chr22:32753939-32753989	K562	blood:	n/a
41	chr22:32753939-32753989	HRE	kidney:	n/a
42	chr22:32753939-32753989	ECC-1	luminal epithelium:	n/a
43	chr22:32753939-32753989	HCT-116	colon:	n/a
44	chr22:32753939-32753989	GM12891	blood:	n/a
45	chr22:32753939-32753989	Caco-2	colon:	n/a
46	chr22:32753939-32753989	GM12878	blood:	n/a
47	chr22:32753939-32753989	BE2_C	brain:	n/a
48	chr22:32753939-32753989	GM12892	blood:	n/a
49	chr22:32753939-32753989	HL-60	blood:	n/a
50	chr22:32753939-32753989	HAEpiC	amniotic membrane:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32665993-32670527..22:32750950-32761732	K562	blood:
2	22:32360288-32405313..22:32750950-32761732	K562	blood:
3	22:31936958-31958600..22:32750950-32761732	Hela-S3	cervix:
4	22:32529813-32538538..22:32750950-32761732	K562	blood:
5	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
6	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
7	22:32284948-32287956..22:32750950-32761732	K562	blood:

No data

Variant related genes	Relation type
IGLCOR22-2	TF binding region
RFPL3	TF binding region
IGLCOR22-2	CpG island
RFPL3	CpG island
ENSG00000224050	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000227813	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000183531	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000240647	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530590004	chr22:32753903-32753904	Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs73881643	chr22:32753904-32753905	Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570692217	chr22:32753940-32753941	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs559119655	chr22:32753956-32753957	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs147764109	chr22:32753961-32753962	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs11912799	chr22:32753972-32753973	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566430254	chr22:32753975-32753976	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs201213357	chr22:32753976-32753977	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs555135679	chr22:32753977-32753978	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs150519201	chr22:32753983-32753984	Weak transcription	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs373498663	chr22:32754010-32754011	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs150412824	chr22:32754014-32754015	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs369034987	chr22:32754019-32754020	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs373089897	chr22:32754025-32754026	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs11089557	chr22:32754036-32754037	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs377077880	chr22:32754044-32754045	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs371466138	chr22:32754058-32754059	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs376850056	chr22:32754061-32754062	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs148000561	chr22:32754067-32754068	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs58637580	chr22:32754103-32754104	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs61729172	chr22:32754116-32754117	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs573663539	chr22:32754123-32754124	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs149824225	chr22:32754155-32754156	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs145783125	chr22:32754181-32754182	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs142824103	chr22:32754189-32754190	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs386820741	chr22:32754230-32754231	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs57606003	chr22:32754232-32754233	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs138730142	chr22:32754233-32754234	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs376474772	chr22:32754250-32754251	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs201647469	chr22:32754252-32754253	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs370716010	chr22:32754255-32754256	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs61729170	chr22:32754256-32754257	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs369494159	chr22:32754261-32754262	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs137999621	chr22:32754274-32754275	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs9621426	chr22:32754286-32754287	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61729169	chr22:32754297-32754298	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs559055234	chr22:32754305-32754306	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs16987625	chr22:32754306-32754307	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs534850183	chr22:32754307-32754308	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs566791304	chr22:32754314-32754315	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs138674931	chr22:32754338-32754339	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs61729168	chr22:32754357-32754358	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs548942587	chr22:32754363-32754364	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs147326673	chr22:32754379-32754380	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs117491646	chr22:32754382-32754383	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs9621427	chr22:32754386-32754387	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs367950014	chr22:32754400-32754401	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs150872415	chr22:32754409-32754410	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs139344772	chr22:32754419-32754420	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs534139595	chr22:32754435-32754436	Weak transcription	TF binding region Chromatin interactive region	10 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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32750800-32755600	Weak transcription	Ovary	ovary
2	chr22:32751000-32754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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