Variant report

Variant	nsv459953
Chromosome Location	chr2:177704321-177720675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:177717600-177717750	BE2_C	brain:	n/a	n/a
2	CTCF	chr2:177717540-177717690	HMEC	breast:	n/a	n/a
3	CTCF	chr2:177717600-177717750	HMEC	breast:	n/a	n/a
4	CTCF	chr2:177717520-177717670	NHEK	skin:	n/a	n/a
5	CTCF	chr2:177717509-177717813	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:177717597-177717776	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:177717480-177717630	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:177709104-177709126	GM10248	blood:	n/a	n/a
9	CTCF	chr2:177717620-177717770	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:177717625-177717726	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:177717655-177717716	NHEK	skin:	n/a	n/a
12	CTCF	chr2:177717640-177717790	GM12873	blood:	n/a	n/a
13	CTCF	chr2:177717611-177717759	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:177717620-177717770	HCT-116	colon:	n/a	n/a
15	CTCF	chr2:177717479-177717677	GM12878	blood:	n/a	n/a
16	CTCF	chr2:177717624-177717746	LNCaP	prostate:	n/a	n/a
17	CTCF	chr2:177717644-177717778	LNCaP	prostate:	n/a	n/a
18	CTCF	chr2:177717620-177717770	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:177717600-177717750	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr2:177717560-177717710	HEK293	kidney:	n/a	n/a
21	CTCF	chr2:177717580-177717730	GM12871	blood:	n/a	n/a
22	CTCF	chr2:177717620-177717770	GM12875	blood:	n/a	n/a
23	CTCF	chr2:177717660-177717810	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr2:177717760-177717910	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:177717380-177717530	HEEpiC	esophagus:	n/a	n/a
26	CUX1	chr2:177712906-177712919	GM12878	blood:	n/a	n/a
27	EBF1	chr2:177715942-177716189	GM12878	blood:	n/a	n/a
28	EP300	chr2:177710315-177710883	MCF-7	breast:	n/a	n/a
29	EP300	chr2:177713307-177714643	SK-N-SH	brain:	n/a	n/a
30	EP300	chr2:177710368-177710846	T-47D	breast:	n/a	n/a
31	EP300	chr2:177710248-177710937	MCF-7	breast:	n/a	n/a
32	EP300	chr2:177717355-177717709	GM12878	blood:	n/a	chr2:177717501-177717510
33	EP300	chr2:177712264-177712634	T-47D	breast:	n/a	chr2:177712416-177712426
34	EP300	chr2:177713491-177714002	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr2:177713469-177713948	SK-N-SH_RA	brain:	n/a	n/a
36	ESR1	chr2:177710339-177710787	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
37	ESR1	chr2:177712257-177712684	T-47D	breast:	n/a	n/a
38	ESR1	chr2:177710418-177710761	ECC-1	luminal epithelium:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
39	ESR1	chr2:177710416-177710763	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
40	ESR1	chr2:177714580-177714876	T-47D	breast:	n/a	n/a
41	ESR1	chr2:177712271-177712763	T-47D	breast:	n/a	n/a
42	ESR1	chr2:177712199-177712916	T-47D	breast:	n/a	n/a
43	ESR1	chr2:177710401-177710778	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
44	ESR1	chr2:177714920-177715317	T-47D	breast:	n/a	n/a
45	ESR1	chr2:177710331-177710856	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
46	ESR1	chr2:177714537-177715318	T-47D	breast:	n/a	n/a
47	ESR1	chr2:177710289-177710844	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634
48	ESR1	chr2:177714867-177715289	T-47D	breast:	n/a	n/a
49	ESR1	chr2:177712224-177712649	T-47D	breast:	n/a	n/a
50	ESR1	chr2:177710289-177710898	T-47D	breast:	n/a	chr2:177710618-177710635 chr2:177710617-177710634

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:177706481..177708996-chr2:177712358..177714045,3	K562	blood:
2	chr10:14319600..14320215-chr2:177711761..177712521,2	MCF-7	breast:
3	chr2:177711466..177713806-chr2:177714846..177717263,2	MCF-7	breast:
4	chr2:177710576..177713068-chr2:177724579..177727566,2	MCF-7	breast:
5	chr2:177706787..177708397-chr2:177708652..177711136,2	K562	blood:
6	chr2:177678711..177679684-chr2:177710502..177711032,2	MCF-7	breast:
7	chr2:177709383..177714584-chr2:177715247..177719528,6	K562	blood:
8	chr2:177708529..177710912-chr2:177735579..177738159,2	MCF-7	breast:
9	chr2:177711466..177713806-chr2:177714846..177717263,2	MCF-7	breast:
10	chr2:177706481..177708996-chr2:177712358..177714045,3	K562	blood:
11	chr2:177691940..177694193-chr2:177709173..177710889,2	K562	blood:
12	chr2:177706787..177708397-chr2:177708652..177711136,2	K562	blood:
13	chr2:177710512..177712113-chr2:177712141..177714677,2	MCF-7	breast:
14	chr2:177709989..177710952-chr2:177737048..177737724,2	MCF-7	breast:
15	chr12:122216302..122217175-chr2:177703580..177704358,2	MCF-7	breast:
16	chr2:177681843..177682647-chr2:177717606..177718164,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFE2L2-3	chr2:177710784-177711105	XLOC_002411
2	lnc-NFE2L2-3	chr2:177713979-177714131	XLOC_002411
3	lnc-HNRNPA3-4	chr2:177708259-177708320	XLOC_001767
4	lnc-HNRNPA3-3	chr2:177714313-177714347	NONHSAT075687
5	lnc-NFE2L2-3	chr2:177709594-177711105	NONHSAT075684
6	lnc-HNRNPA3-4	chr2:177708258-177708320	NONHSAT075682
7	lnc-HNRNPA3-4	chr2:177710393-177711108	NONHSAT075682
8	lnc-NFE2L2-3	chr2:177714003-177714113	NONHSAT075684
9	lnc-NFE2L2-4	chr2:177708224-177708327	XLOC_002410
10	lnc-HNRNPA3-3	chr2:177714314-177714347	XLOC_001768
11	lnc-NFE2L2-3	chr2:177713303-177713385	XLOC_002411
12	lnc-HNRNPA3-4	chr2:177710935-177711096	XLOC_001767

No data

Variant related genes	Relation type
ENSG00000227098	TF binding region
ENSG00000227098	chromatin interactions
RORA	miRNA target sites
ROD1	miRNA target sites

Extended variants
information (count: 462 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:462 , 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	rs572348784	chr2:177708203-177708204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538223299	chr2:177708217-177708218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1866130	chr2:177708225-177708226	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548379030	chr2:177708257-177708258	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550912938	chr2:177708275-177708276	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs151126424	chr2:177708304-177708305	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554463751	chr2:177708313-177708314	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527363180	chr2:177708360-177708361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570785849	chr2:177708389-177708390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374879145	chr2:177708394-177708395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55885993	chr2:177708437-177708438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182045411	chr2:177708458-177708459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141081481	chr2:177708478-177708479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556132469	chr2:177708485-177708486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186678687	chr2:177708563-177708564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16864568	chr2:177708603-177708604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554707485	chr2:177708651-177708652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191440318	chr2:177708667-177708668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185671507	chr2:177708677-177708678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36071902	chr2:177708740-177708741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397718560	chr2:177708741-177708742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201432657	chr2:177708742-177708743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190494117	chr2:177708759-177708760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369245134	chr2:177708803-177708804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544235741	chr2:177708809-177708810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193075363	chr2:177708810-177708811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574753737	chr2:177708839-177708840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542181334	chr2:177708848-177708849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376988737	chr2:177708863-177708864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73975504	chr2:177708866-177708867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11694439	chr2:177708867-177708868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535119397	chr2:177708874-177708875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530321813	chr2:177708891-177708892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149825251	chr2:177708932-177708933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185236638	chr2:177709005-177709006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531437083	chr2:177709011-177709012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150834798	chr2:177709017-177709018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549481953	chr2:177709029-177709030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567733158	chr2:177709039-177709040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188570283	chr2:177709040-177709041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1153668	chr2:177709071-177709072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531147964	chr2:177709168-177709169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181288881	chr2:177709182-177709183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147918680	chr2:177709223-177709224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561768808	chr2:177709231-177709232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577239495	chr2:177709248-177709249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552355309	chr2:177709257-177709258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115409741	chr2:177709271-177709272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185152283	chr2:177709290-177709291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6728420	chr2:177709335-177709336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177708200-177711600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:177708400-177711400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:177708800-177710600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:177708800-177710800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:177709400-177709800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:177709600-177710000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:177709800-177710600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:177709800-177710800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:177710000-177716800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:177710600-177710800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:177710600-177716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:177710800-177715000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:177710800-177716600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:177711400-177715800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:177711600-177713800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:177711800-177712200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:177711800-177712600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:177712200-177712600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:177712200-177717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:177712400-177712600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:177712400-177712600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:177712400-177712800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:177712400-177712800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:177712600-177716200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:177712600-177716600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:177712600-177717200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:177712600-177717200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:177712800-177716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:177712800-177716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:177713800-177715800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:177715000-177715200	Enhancers	Thymus	Thymus
32	chr2:177715000-177715400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:177715000-177715400	Enhancers	Spleen	Spleen
34	chr2:177715200-177715400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:177715200-177716600	Weak transcription	Thymus	Thymus
36	chr2:177715400-177716600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:177715400-177717600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:177715600-177716000	Enhancers	Colon Smooth Muscle	Colon
39	chr2:177715600-177716800	Enhancers	Fetal Kidney	kidney
40	chr2:177715600-177717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:177715600-177718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:177715800-177717600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:177715800-177722800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:177716000-177717400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:177716000-177717400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:177716000-177717800	Enhancers	Brain Germinal Matrix	brain
47	chr2:177716200-177717400	Enhancers	Fetal Brain Male	brain
48	chr2:177716200-177717600	Enhancers	Fetal Brain Female	brain
49	chr2:177716200-177718000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:177716200-177722400	Enhancers	Primary T helper cells PMA-I stimulated	--

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