Variant report

Variant	nsv582534
Chromosome Location	chr2:101263701-101275822
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	BACH1	chr2:101271748-101271769	K562	blood:	n/a	n/a
2	CHD1	chr2:101273840-101273847	GM12878	blood:	n/a	n/a
3	CTCF	chr2:101269808-101270036	HepG2	liver:	n/a	n/a
4	CTCF	chr2:101263888-101263891	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr2:101269740-101269890	AG04449	skin:	n/a	n/a
6	CTCF	chr2:101269928-101269970	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:101263820-101263970	NB4	blood:	n/a	n/a
8	CTCF	chr2:101263899-101263901	Hela-S3	cervix:	n/a	n/a
9	E2F4	chr2:101272766-101272838	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr2:101272310-101273100	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr2:101272677-101273033	ECC-1	luminal epithelium:	n/a	n/a
12	GATA3	chr2:101275624-101276000	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr2:101275659-101276140	SK-N-SH	brain:	n/a	n/a
14	MAFF	chr2:101274633-101274857	HepG2	liver:	n/a	chr2:101274736-101274754
15	MAFK	chr2:101274666-101274808	HepG2	liver:	n/a	n/a
16	MAFK	chr2:101269095-101269229	HepG2	liver:	n/a	chr2:101269182-101269197
17	MAFK	chr2:101269133-101269345	HepG2	liver:	n/a	chr2:101269182-101269197
18	MAFK	chr2:101274622-101274846	HepG2	liver:	n/a	n/a
19	MYC	chr2:101265381-101265391	H1-hESC	embryonic stem cell:	n/a	n/a
20	NFYA	chr2:101264304-101264589	K562	blood:	n/a	chr2:101264384-101264398
21	NFYB	chr2:101264250-101264514	GM12878	blood:	n/a	chr2:101264384-101264398
22	NFYB	chr2:101264228-101264799	K562	blood:	n/a	chr2:101264384-101264398
23	POLR2A	chr2:101265226-101265230	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:101266313-101266484	K562	blood:	n/a	n/a
25	POLR2A	chr2:101265880-101266080	K562	blood:	n/a	n/a
26	POLR2A	chr2:101265057-101265065	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:101265079-101265210	GM12878	blood:	n/a	n/a
28	TCF12	chr2:101272364-101273177	ECC-1	luminal epithelium:	n/a	n/a
29	TEAD4	chr2:101272465-101273097	ECC-1	luminal epithelium:	n/a	n/a
30	TEAD4	chr2:101272514-101273076	ECC-1	luminal epithelium:	n/a	n/a
31	USF1	chr2:101264218-101264587	H1-hESC	embryonic stem cell:	n/a	chr2:101264362-101264373
32	USF1	chr2:101264218-101264582	A549	lung:	n/a	chr2:101264362-101264373
33	USF1	chr2:101264142-101264553	A549	lung:	n/a	chr2:101264362-101264373
34	USF1	chr2:101272476-101272727	SK-N-SH_RA	brain:	n/a	chr2:101272622-101272633
35	USF1	chr2:101264215-101264561	A549	lung:	n/a	chr2:101264362-101264373
36	USF1	chr2:101272348-101272851	HCT-116	colon:	n/a	chr2:101272622-101272633
37	USF1	chr2:101264229-101264498	SK-N-SH_RA	brain:	n/a	chr2:101264362-101264373
38	USF1	chr2:101272512-101272724	A549	lung:	n/a	chr2:101272622-101272633
39	USF1	chr2:101264113-101264559	ECC-1	luminal epithelium:	n/a	chr2:101264362-101264373
40	USF1	chr2:101263989-101264704	HCT-116	colon:	n/a	chr2:101264362-101264373
41	USF1	chr2:101272476-101272753	K562	blood:	n/a	chr2:101272622-101272633
42	USF1	chr2:101264182-101264497	H1-hESC	embryonic stem cell:	n/a	chr2:101264362-101264373
43	USF1	chr2:101272501-101272758	SK-N-SH_RA	brain:	n/a	chr2:101272622-101272633
44	USF1	chr2:101272340-101272832	ECC-1	luminal epithelium:	n/a	chr2:101272622-101272633
45	USF1	chr2:101272315-101272880	ECC-1	luminal epithelium:	n/a	chr2:101272622-101272633
46	USF1	chr2:101272472-101272838	K562	blood:	n/a	chr2:101272622-101272633
47	USF1	chr2:101264256-101264532	ECC-1	luminal epithelium:	n/a	chr2:101264362-101264373
48	USF1	chr2:101272469-101272719	HepG2	liver:	n/a	chr2:101272622-101272633
49	USF1	chr2:101264142-101264594	HCT-116	colon:	n/a	chr2:101264362-101264373
50	USF1	chr2:101264242-101264456	GM12878	blood:	n/a	chr2:101264362-101264373

No.	Distal block	Cell Line	Cell type
1	chr2:101261305..101263989-chr2:101623763..101625795,2	MCF-7	breast:
2	chr2:101244463..101246653-chr2:101271158..101274017,2	MCF-7	breast:
3	chr2:101262734..101264650-chr2:101271129..101273492,2	MCF-7	breast:
4	chr2:101259734..101262319-chr2:101262984..101265264,2	K562	blood:
5	chr2:101262963..101265350-chr2:101269447..101271843,2	K562	blood:
6	chr2:101262734..101264650-chr2:101271129..101273492,2	MCF-7	breast:
7	chr2:101262963..101265350-chr2:101269447..101271843,2	K562	blood:

Variant related genes	Relation type
NANOGNBP1	TF binding region

Extended variants
information (count: 512 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117096848	chr2:101263718-101263719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558059208	chr2:101263722-101263723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571056425	chr2:101263792-101263793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138140693	chr2:101263806-101263807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556575248	chr2:101263824-101263825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573319561	chr2:101263827-101263828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542189911	chr2:101263841-101263842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187840622	chr2:101263890-101263891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112859176	chr2:101263903-101263904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149103737	chr2:101263941-101263942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75206335	chr2:101263951-101263952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564926596	chr2:101263964-101263965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10198248	chr2:101263996-101263997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564931920	chr2:101264007-101264008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192408074	chr2:101264061-101264062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143132186	chr2:101264148-101264149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373389211	chr2:101264164-101264165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529325660	chr2:101264228-101264229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533568934	chr2:101264235-101264236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376529225	chr2:101264275-101264276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183568181	chr2:101264291-101264292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73967631	chr2:101264320-101264321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528778326	chr2:101264359-101264360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11695640	chr2:101264407-101264408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148235731	chr2:101264466-101264467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537216677	chr2:101264536-101264537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188613037	chr2:101264541-101264542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192794288	chr2:101264576-101264577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536251153	chr2:101264612-101264613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552682179	chr2:101264658-101264659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573135904	chr2:101264661-101264662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10153848	chr2:101264673-101264674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377118909	chr2:101264718-101264719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575524478	chr2:101264745-101264746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557974324	chr2:101264768-101264769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544391400	chr2:101264828-101264829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563783240	chr2:101264832-101264833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370566402	chr2:101264859-101264860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575347971	chr2:101264872-101264873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10153955	chr2:101264880-101264881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs543055144	chr2:101264892-101264893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559466296	chr2:101264893-101264894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184928827	chr2:101264930-101264931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77443046	chr2:101264939-101264940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141253498	chr2:101264964-101264965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189440878	chr2:101265075-101265076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550720243	chr2:101265081-101265082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549388310	chr2:101265084-101265085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4073585	chr2:101265123-101265124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535959652	chr2:101265130-101265131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101261600-101266200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:101262000-101265800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:101262200-101265400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:101262400-101265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:101262400-101265600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:101262400-101265800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:101262600-101265600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:101262600-101265800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:101262800-101265400	Weak transcription	Primary T cells from cord blood	blood
10	chr2:101262800-101265400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:101263000-101264200	Weak transcription	Dnd41	blood
12	chr2:101264400-101264600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:101265200-101267000	Enhancers	Fetal Thymus	thymus
14	chr2:101265400-101270400	Enhancers	Primary T cells from cord blood	blood
15	chr2:101265400-101270800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:101265400-101272000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:101265600-101270600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:101265600-101271600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:101265600-101271600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:101265800-101267200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:101265800-101268400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:101265800-101271000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:101265800-101271400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:101266200-101266800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:101266200-101266800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:101266400-101266600	Enhancers	Dnd41	blood
27	chr2:101266600-101266800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:101266800-101269800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:101267000-101268000	Weak transcription	Fetal Thymus	thymus
30	chr2:101268000-101272800	Enhancers	Fetal Thymus	thymus
31	chr2:101268400-101269600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:101269600-101269800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:101269800-101270200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:101270000-101270200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:101270400-101277000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:101270600-101271000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:101270800-101271200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:101271000-101271600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:101271200-101271600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:101271600-101272800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:101271600-101277000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:101271800-101272200	Enhancers	Colon Smooth Muscle	Colon
43	chr2:101271800-101272400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:101271800-101272600	Enhancers	Pancreas	Pancrea
45	chr2:101272000-101273200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:101272600-101273400	Weak transcription	Pancreas	Pancrea
47	chr2:101272800-101275000	Weak transcription	Fetal Thymus	thymus
48	chr2:101273400-101273600	Enhancers	Pancreas	Pancrea
49	chr2:101275000-101275400	Enhancers	Fetal Thymus	thymus
50	chr2:101275200-101275400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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