Variant report

Variant	nsv818006
Chromosome Location	chr2:67424193-67438040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:67431528-67431811	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:67437500-67437650	GM12871	blood:	n/a	chr2:67437521-67437534
3	CTCF	chr2:67437440-67437590	A549	lung:	n/a	chr2:67437521-67437534
4	CTCF	chr2:67437640-67437790	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr2:67437680-67437830	HMF	breast:	n/a	n/a
6	CTCF	chr2:67437600-67437750	NHEK	skin:	n/a	n/a
7	CTCF	chr2:67437560-67437710	GM12864	blood:	n/a	n/a
8	CTCF	chr2:67437580-67437730	HMF	breast:	n/a	n/a
9	CTCF	chr2:67437600-67437750	GM12865	blood:	n/a	n/a
10	CTCF	chr2:67437600-67437750	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr2:67428990-67429038	Lung_OC	lung:	n/a	n/a
12	CTCF	chr2:67437600-67437750	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr2:67437600-67437750	AG04450	lung:	n/a	n/a
14	CTCF	chr2:67437640-67437790	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr2:67437680-67437830	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr2:67437680-67437830	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr2:67437600-67437750	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr2:67437620-67437770	BE2_C	brain:	n/a	n/a
19	CTCF	chr2:67437720-67437870	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr2:67437600-67437750	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr2:67437620-67437770	NHLF	lung:	n/a	n/a
22	CTCF	chr2:67437640-67437790	AG04450	lung:	n/a	n/a
23	CTCF	chr2:67437580-67437730	HEK293	kidney:	n/a	n/a
24	CTCF	chr2:67437580-67437730	HCT-116	colon:	n/a	n/a
25	CTCF	chr2:67437680-67437830	HAc	cerebellar:	n/a	n/a
26	CTCF	chr2:67437660-67437810	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:67437680-67437830	HepG2	liver:	n/a	n/a
28	CTCF	chr2:67437660-67437810	AG10803	skin:	n/a	n/a
29	CTCF	chr2:67437600-67437750	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr2:67437660-67437810	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr2:67437560-67437830	HVMF	connective:	n/a	n/a
32	CTCF	chr2:67437620-67437770	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr2:67437720-67437870	BE2_C	brain:	n/a	n/a
34	CTCF	chr2:67437620-67437770	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr2:67437600-67437750	HPF	lung:	n/a	n/a
36	CTCF	chr2:67437600-67437750	GM12864	blood:	n/a	n/a
37	CTCF	chr2:67437620-67437770	AG09309	skin:	n/a	n/a
38	CTCF	chr2:67437620-67437770	HCFaa	heart:	n/a	n/a
39	CTCF	chr2:67437640-67437790	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:67437620-67437770	K562	blood:	n/a	n/a
41	CTCF	chr2:67437697-67437766	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr2:67437640-67437790	GM12875	blood:	n/a	n/a
43	CTCF	chr2:67437720-67437870	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:67437540-67437690	Caco-2	colon:	n/a	n/a
45	ESR1	chr2:67436175-67436450	ECC-1	luminal epithelium:	n/a	n/a
46	GATA3	chr2:67429092-67429108	SH-SY5Y	brain:	n/a	n/a
47	JUND	chr2:67425040-67425325	HepG2	liver:	n/a	n/a
48	MAFF	chr2:67431563-67431773	K562	blood:	n/a	chr2:67431665-67431683 chr2:67431671-67431685
49	MAFF	chr2:67431504-67431844	HepG2	liver:	n/a	chr2:67431665-67431683 chr2:67431671-67431685
50	MAFK	chr2:67431515-67431812	HepG2	liver:	n/a	chr2:67431667-67431683 chr2:67431671-67431685 chr2:67431667-67431682 chr2:67431667-67431678 chr2:67431672-67431681 chr2:67431668-67431688 chr2:67431670-67431686 chr2:67431668-67431679 chr2:67431666-67431680 chr2:67431667-67431678

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67428374..67430346-chr2:67431827..67434171,3	K562	blood:
2	chr2:67428374..67430346-chr2:67431827..67434171,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
2	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
3	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
4	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
5	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
6	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142
7	lnc-C1D-3	chr2:67430248-67430305	XLOC_002142
8	lnc-C1D-3	chr2:67432641-67432695	XLOC_002142

No data

Variant related genes	Relation type
ENSG00000230906	TF binding region

Extended variants
information (count: 619 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7590628	chr2:67424193-67424194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546887992	chr2:67424196-67424197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183841713	chr2:67424229-67424230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79624411	chr2:67424230-67424231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60519177	chr2:67424262-67424263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565289777	chr2:67424273-67424274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189157174	chr2:67424282-67424283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145707665	chr2:67424306-67424307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192265717	chr2:67424332-67424333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11901629	chr2:67424352-67424353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571075549	chr2:67424369-67424370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536402844	chr2:67424380-67424381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552904921	chr2:67424476-67424477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572875800	chr2:67424531-67424532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34534062	chr2:67424532-67424533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544814219	chr2:67424559-67424560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558516891	chr2:67424567-67424568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575359233	chr2:67424575-67424576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149119123	chr2:67424619-67424620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561525904	chr2:67424672-67424673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370873867	chr2:67424680-67424681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112218414	chr2:67424704-67424705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560551199	chr2:67424710-67424711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532621516	chr2:67424712-67424713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552430746	chr2:67424721-67424722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79358671	chr2:67424722-67424723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531550415	chr2:67424815-67424816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375299006	chr2:67424827-67424828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79460265	chr2:67424835-67424836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115534232	chr2:67424895-67424896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536185070	chr2:67424954-67424955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553120514	chr2:67424964-67424965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555356472	chr2:67424976-67424977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112461903	chr2:67424984-67424985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558256383	chr2:67424986-67424987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538245252	chr2:67424990-67424991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558640328	chr2:67425005-67425006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575293040	chr2:67425009-67425010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183673824	chr2:67425011-67425012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551710844	chr2:67425022-67425023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371727706	chr2:67425038-67425039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554626747	chr2:67425056-67425057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575054008	chr2:67425061-67425062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138738353	chr2:67425070-67425071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560726699	chr2:67425101-67425102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367868803	chr2:67425111-67425112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544303260	chr2:67425112-67425113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546379442	chr2:67425155-67425156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141767506	chr2:67425171-67425172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116501178	chr2:67425172-67425173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67423800-67437400	Weak transcription	Pancreas	Pancrea
2	chr2:67430000-67437400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:67432400-67432800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:67432800-67434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:67434600-67435000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:67434600-67435200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:67434800-67435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:67434800-67435200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:67434800-67435200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:67435200-67442200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:67435400-67436000	Enhancers	Fetal Lung	lung
12	chr2:67436000-67436400	Weak transcription	Fetal Lung	lung
13	chr2:67436200-67436400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:67436400-67436600	Enhancers	Fetal Lung	lung
15	chr2:67436400-67440400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:67436600-67439000	Weak transcription	Fetal Lung	lung
17	chr2:67437400-67437600	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr2:67437400-67437600	Enhancers	Fetal Stomach	stomach
19	chr2:67437400-67439000	Enhancers	Pancreas	Pancrea
20	chr2:67437600-67437800	Active TSS	Colon Smooth Muscle	Colon
21	chr2:67437600-67438200	Weak transcription	Fetal Stomach	stomach
22	chr2:67437800-67440400	Weak transcription	Colon Smooth Muscle	Colon

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