Variant report

Variant	nsv979670
Chromosome Location	chr22:32512481-32525114
allele	n/a
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	CEBPB	chr22:32521088-32521164	HepG2	liver:	n/a	chr22:32521119-32521132 chr22:32521121-32521132 chr22:32521119-32521130 chr22:32521119-32521132
2	CEBPB	chr22:32519775-32519894	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:32519854-32519857	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr22:32515908-32516114	HepG2	liver:	n/a	chr22:32516034-32516052
5	CTCF	chr22:32515980-32516130	HMEC	breast:	n/a	chr22:32516034-32516052
6	CTCF	chr22:32519700-32519850	HEEpiC	esophagus:	n/a	chr22:32519812-32519830
7	CTCF	chr22:32519741-32519915	LNCaP	prostate:	n/a	chr22:32519812-32519830
8	CTCF	chr22:32523880-32524030	K562	blood:	n/a	chr22:32524014-32524030 chr22:32524016-32524029
9	CTCF	chr22:32520067-32520106	GM12891	blood:	n/a	n/a
10	CTCF	chr22:32516002-32516078	Hela-S3	cervix:	n/a	chr22:32516034-32516052
11	CTCF	chr22:32523940-32524090	GM12867	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
12	CTCF	chr22:32519740-32519890	HPAF	blood vessel:	n/a	chr22:32519812-32519830
13	CTCF	chr22:32519720-32519870	GM12873	blood:	n/a	chr22:32519812-32519830
14	CTCF	chr22:32523940-32524090	WERI-Rb-1	eye:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
15	CTCF	chr22:32515995-32516076	GM12892	blood:	n/a	chr22:32516034-32516052
16	CTCF	chr22:32523900-32524050	GM12873	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
17	CTCF	chr22:32518315-32518516	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr22:32523988-32523997	HepG2	liver:	n/a	n/a
19	CTCF	chr22:32524020-32524170	GM12873	blood:	n/a	n/a
20	CTCF	chr22:32523940-32524090	HCT-116	colon:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
21	CTCF	chr22:32524000-32524150	NB4	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
22	CTCF	chr22:32519760-32519910	HUVEC	blood vessel:	n/a	chr22:32519812-32519830
23	CTCF	chr22:32519729-32519942	GM12891	blood:	n/a	chr22:32519812-32519830
24	CTCF	chr22:32519752-32519908	GM19240	blood:	n/a	chr22:32519812-32519830
25	CTCF	chr22:32523940-32524090	GM12875	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
26	CTCF	chr22:32524020-32524170	GM12866	blood:	n/a	n/a
27	CTCF	chr22:32519318-32519324	MCF-7	breast:	n/a	n/a
28	CTCF	chr22:32523960-32524110	WERI-Rb-1	eye:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
29	CTCF	chr22:32523900-32524050	GM12865	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
30	CTCF	chr22:32515993-32516100	MCF-7	breast:	n/a	chr22:32516034-32516052
31	CTCF	chr22:32519680-32519830	GM12865	blood:	n/a	chr22:32519812-32519830
32	CTCF	chr22:32519643-32520086	MCF-7	breast:	n/a	chr22:32519812-32519830
33	CTCF	chr22:32519740-32519890	A549	lung:	n/a	chr22:32519812-32519830
34	CTCF	chr22:32519783-32519891	GM13977	blood:	n/a	chr22:32519812-32519830
35	CTCF	chr22:32519664-32519987	GM12878	blood:	n/a	chr22:32519812-32519830
36	CTCF	chr22:32519720-32519917	GM12878	blood:	n/a	chr22:32519812-32519830
37	CTCF	chr22:32519760-32519899	Hela-S3	cervix:	n/a	chr22:32519812-32519830
38	CTCF	chr22:32515900-32516050	GM12872	blood:	n/a	n/a
39	CTCF	chr22:32519740-32519890	NB4	blood:	n/a	chr22:32519812-32519830
40	CTCF	chr22:32516002-32516052	GM19238	blood:	n/a	chr22:32516034-32516052
41	CTCF	chr22:32519640-32519790	GM12865	blood:	n/a	n/a
42	CTCF	chr22:32519780-32519882	GM10248	blood:	n/a	chr22:32519812-32519830
43	CTCF	chr22:32515993-32516004	Fibrobl	skin:	n/a	n/a
44	CTCF	chr22:32524000-32524050	MCF-7	breast:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
45	CTCF	chr22:32523900-32524050	HMF	breast:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
46	CTCF	chr22:32523970-32524076	GM19238	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
47	CTCF	chr22:32523981-32524070	A549	lung:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
48	CTCF	chr22:32519732-32519889	K562	blood:	n/a	chr22:32519812-32519830
49	CTCF	chr22:32523844-32524300	K562	blood:	n/a	chr22:32524013-32524031 chr22:32524014-32524030 chr22:32524016-32524029
50	CTCF	chr22:32515977-32516119	MCF-7	breast:	n/a	chr22:32516034-32516052

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32513817-32522138..22:32740683-32750950	K562	blood:
2	22:32012966-32043914..22:32513817-32522138	K562	blood:
3	22:32513817-32522138..22:32868055-32872511	K562	blood:
4	22:32513817-32522138..22:32860159-32865649	K562	blood:
5	chr22:32523564..32526507-chr22:33453978..33455661,2	MCF-7	breast:
6	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
7	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
8	22:31961151-31976153..22:32513817-32522138	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf42-2	chr22:32515842-32515989	NONHSAT084938
2	lnc-C22orf42-2	chr22:32517398-32517642	NONHSAT084938
3	lnc-C22orf42-2	chr22:32517490-32517659	XLOC_014347
4	lnc-C22orf42-2	chr22:32515842-32515989	XLOC_014347
5	lnc-C22orf42-2	chr22:32515842-32515989	XLOC_014347
6	lnc-C22orf42-2	chr22:32517398-32517633	XLOC_014347

Variant related genes	Relation type
AP1B1P1	TF binding region
AP1B1P2	TF binding region
ENSG00000237439	TF binding region
ENSG00000128276	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000185666	chromatin interactions

Extended variants
information (count: 461 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:461 , 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	rs559717665	chr22:32512606-32512607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573350639	chr22:32512632-32512633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145008787	chr22:32512715-32512716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35025658	chr22:32512733-32512734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560942754	chr22:32512783-32512784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181656943	chr22:32512801-32512802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5994464	chr22:32512808-32512809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73881609	chr22:32512832-32512833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532306579	chr22:32512836-32512837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552415850	chr22:32512861-32512862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191444547	chr22:32512864-32512865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568483147	chr22:32512873-32512874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577425454	chr22:32512874-32512875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534796862	chr22:32512886-32512887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548325307	chr22:32512897-32512898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568205636	chr22:32512918-32512919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181131470	chr22:32512978-32512979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556940005	chr22:32512985-32512986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527721358	chr22:32513060-32513061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576799817	chr22:32513093-32513094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539758527	chr22:32513133-32513134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553613396	chr22:32513137-32513138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529063470	chr22:32513145-32513146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547791747	chr22:32513215-32513216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571173121	chr22:32513216-32513217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573384092	chr22:32513218-32513219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35257701	chr22:32513247-32513248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186502252	chr22:32513272-32513273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561003845	chr22:32513284-32513285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78051300	chr22:32513367-32513368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190973630	chr22:32513430-32513431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182145073	chr22:32513447-32513448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187814644	chr22:32513505-32513506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539737728	chr22:32513517-32513518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35013323	chr22:32513551-32513552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35536427	chr22:32513579-32513580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559599416	chr22:32513587-32513588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73391066	chr22:32513605-32513606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142234870	chr22:32513620-32513621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151035363	chr22:32513654-32513655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369028127	chr22:32513659-32513660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4597640	chr22:32513678-32513679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537171826	chr22:32513687-32513688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80148383	chr22:32513717-32513718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573944362	chr22:32513845-32513846	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs543044778	chr22:32513849-32513850	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs570106580	chr22:32513947-32513948	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs190781263	chr22:32514050-32514051	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs539799674	chr22:32514057-32514058	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs142369339	chr22:32514090-32514091	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32493200-32515400	Weak transcription	Right Ventricle	heart
2	chr22:32500800-32512600	Weak transcription	Fetal Heart	heart
3	chr22:32508800-32515400	Weak transcription	Left Ventricle	heart
4	chr22:32510800-32512800	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32510800-32513000	Weak transcription	Fetal Intestine Large	intestine
6	chr22:32511400-32513000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr22:32515400-32516000	Enhancers	Left Ventricle	heart
8	chr22:32515600-32515800	Enhancers	Right Atrium	heart
9	chr22:32515600-32515800	Enhancers	Right Ventricle	heart
10	chr22:32515600-32516800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:32515600-32520000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:32515800-32533600	Weak transcription	Right Atrium	heart
13	chr22:32517600-32518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:32518000-32520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:32518400-32520000	Weak transcription	Gastric	stomach
16	chr22:32519800-32520200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr22:32519800-32520400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:32520000-32520200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr22:32520000-32520200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr22:32520000-32520200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:32520000-32520200	Enhancers	Gastric	stomach
22	chr22:32520000-32522200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:32520200-32522200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:32520200-32524000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:32520200-32528000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:32520400-32522200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr22:32520600-32521800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr22:32520600-32522600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:32520800-32521000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr22:32520800-32522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:32521000-32521600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr22:32521000-32521800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr22:32521600-32521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr22:32524000-32524400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr22:32524200-32524600	Enhancers	H9 Cell Line	embryonic stem cell

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