Variant report

Variant	nsv1056845
Chromosome Location	chr22:34066401-34102719
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	chr22:34078948-34079234	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:34079121-34079126	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr22:34080182-34080371	HepG2	liver:	n/a	n/a
4	CEBPB	chr22:34067486-34067807	HepG2	liver:	n/a	chr22:34067616-34067627 chr22:34067642-34067655 chr22:34067643-34067654 chr22:34067615-34067628
5	CEBPB	chr22:34078971-34079195	A549	lung:	n/a	n/a
6	CTCF	chr22:34067861-34067887	Lung_OC	lung:	n/a	n/a
7	CTCF	chr22:34102257-34102439	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr22:34099177-34099245	Lung_OC	lung:	n/a	n/a
9	CTCF	chr22:34102300-34102450	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr22:34102228-34102527	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr22:34078420-34078570	HEK293	kidney:	n/a	chr22:34078508-34078526
12	CTCF	chr22:34068200-34068350	GM12865	blood:	n/a	n/a
13	CTCF	chr22:34078560-34078710	NHEK	skin:	n/a	n/a
14	ELF1	chr22:34102204-34102434	GM12878	blood:	n/a	n/a
15	GTF2F1	chr22:34101242-34101244	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUN	chr22:34067528-34067719	HepG2	liver:	n/a	chr22:34067640-34067653
17	JUN	chr22:34073772-34074152	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr22:34067550-34067817	HepG2	liver:	n/a	n/a
19	MAFK	chr22:34102437-34102717	H1-hESC	embryonic stem cell:	n/a	chr22:34102644-34102653
20	MAFK	chr22:34067774-34067908	HepG2	liver:	n/a	n/a
21	MAFK	chr22:34099889-34100184	HepG2	liver:	n/a	n/a
22	MAFK	chr22:34099981-34100190	HepG2	liver:	n/a	n/a
23	MAZ	chr22:34077599-34077692	GM12878	blood:	n/a	n/a
24	MXI1	chr22:34093599-34094148	IMR90	lung:	n/a	n/a
25	MXI1	chr22:34101911-34102005	GM12878	blood:	n/a	n/a
26	NFE2	chr22:34099830-34099896	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:34094762-34094846	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr22:34076598-34077088	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr22:34086835-34086837	MCF-7	breast:	n/a	n/a
30	POLR2A	chr22:34091915-34091983	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr22:34076537-34077074	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr22:34071169-34071243	A549	lung:	n/a	n/a
33	POLR2A	chr22:34069202-34069262	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:34086856-34086881	MCF-7	breast:	n/a	n/a
35	POLR2A	chr22:34094303-34094426	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr22:34086756-34086799	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr22:34092001-34092008	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr22:34083931-34083936	MCF-7	breast:	n/a	n/a
39	POLR2A	chr22:34074692-34074899	K562	blood:	n/a	n/a
40	POLR2A	chr22:34091060-34091067	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr22:34080068-34080220	MCF-7	breast:	n/a	n/a
42	POLR2A	chr22:34071057-34071252	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:34084742-34084770	MCF-7	breast:	n/a	n/a
44	POLR2A	chr22:34091816-34091887	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr22:34096510-34096644	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr22:34078045-34078115	MCF-7	breast:	n/a	n/a
47	POLR2A	chr22:34087675-34087719	MCF-7	breast:	n/a	n/a
48	POLR2A	chr22:34083214-34083293	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:34094692-34094704	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr22:34099560-34099727	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253007	TF binding region

Extended variants
information (count: 1572 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1572 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533561038	chr22:34066403-34066404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557456460	chr22:34066410-34066411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188169510	chr22:34066512-34066513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542882400	chr22:34066521-34066522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368143968	chr22:34066546-34066547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536922176	chr22:34066549-34066550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117225223	chr22:34066580-34066581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576725279	chr22:34066658-34066659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180740204	chr22:34066679-34066680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77036935	chr22:34066691-34066692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147162681	chr22:34066762-34066763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375043543	chr22:34066764-34066765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184764277	chr22:34066769-34066770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5754633	chr22:34066806-34066807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560945680	chr22:34066836-34066837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2267249	chr22:34066846-34066847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548853588	chr22:34066847-34066848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190576290	chr22:34066881-34066882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367657235	chr22:34066886-34066887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371829740	chr22:34066902-34066903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531405929	chr22:34066920-34066921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551509649	chr22:34066966-34066967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564750194	chr22:34066981-34066982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571293806	chr22:34067021-34067022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2267250	chr22:34067054-34067055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114398353	chr22:34067055-34067056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567253585	chr22:34067085-34067086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536219871	chr22:34067099-34067100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543832547	chr22:34067142-34067143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140550101	chr22:34067170-34067171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367892523	chr22:34067240-34067241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538869611	chr22:34067248-34067249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559098421	chr22:34067260-34067261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572497060	chr22:34067268-34067269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144614604	chr22:34067295-34067296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555674806	chr22:34067382-34067383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371959228	chr22:34067389-34067390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574511010	chr22:34067390-34067391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543362703	chr22:34067403-34067404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375101495	chr22:34067404-34067405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562449793	chr22:34067441-34067442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531622594	chr22:34067482-34067483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148471895	chr22:34067544-34067545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565068658	chr22:34067545-34067546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181848582	chr22:34067564-34067565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547530333	chr22:34067599-34067600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567340777	chr22:34067659-34067660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529717370	chr22:34067687-34067688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549757646	chr22:34067688-34067689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570294547	chr22:34067703-34067704	Weak transcription	n/a	n/a	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
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
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34053800-34070400	Weak transcription	Lung	lung
2	chr22:34055200-34068200	Weak transcription	Spleen	Spleen
3	chr22:34062000-34066600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:34062000-34067600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr22:34062200-34066800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr22:34062200-34067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:34062400-34067200	Enhancers	Left Ventricle	heart
8	chr22:34062600-34067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:34062600-34077600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:34063200-34067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:34063200-34096000	Weak transcription	GM12878-XiMat	blood
12	chr22:34063400-34066800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:34063400-34067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr22:34063600-34072800	Weak transcription	Brain Anterior Caudate	brain
15	chr22:34063600-34093600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr22:34063800-34068400	Weak transcription	Fetal Brain Female	brain
17	chr22:34063800-34093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:34064400-34080000	Weak transcription	Aorta	Aorta
19	chr22:34064600-34066800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr22:34064800-34067600	Enhancers	Right Ventricle	heart
21	chr22:34064800-34070400	Weak transcription	Pancreas	Pancrea
22	chr22:34065000-34070400	Weak transcription	Psoas Muscle	Psoas
23	chr22:34065200-34068200	Weak transcription	Right Atrium	heart
24	chr22:34065600-34066800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:34065600-34067600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr22:34065800-34066600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:34066000-34070000	Weak transcription	Gastric	stomach
28	chr22:34066000-34070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:34066200-34067400	Weak transcription	Fetal Heart	heart
30	chr22:34066200-34073800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:34066400-34066600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:34066400-34066600	Enhancers	Ovary	ovary
33	chr22:34066400-34073600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:34066400-34074200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:34066600-34067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:34066600-34067000	Weak transcription	Ovary	ovary
37	chr22:34066600-34067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:34066600-34073600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:34066800-34067200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:34066800-34070400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr22:34066800-34070600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:34066800-34073000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:34067000-34067200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:34067000-34067200	Enhancers	Ovary	ovary
45	chr22:34067200-34067400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr22:34067200-34067400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr22:34067200-34067400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:34067200-34068200	Weak transcription	Left Ventricle	heart
49	chr22:34067200-34068200	Weak transcription	Ovary	ovary
50	chr22:34067200-34069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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