Variant report

Variant	nsv1014208
Chromosome Location	chr2:141707558-141790148
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	chr2:141786570-141786643	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:141787024-141787341	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:141710353-141710587	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:141787064-141787627	H1-hESC	embryonic stem cell:	n/a	chr2:141787451-141787462
5	CEBPB	chr2:141787267-141787636	IMR90	lung:	n/a	chr2:141787451-141787462
6	CEBPB	chr2:141755585-141755929	HepG2	liver:	n/a	chr2:141755748-141755761 chr2:141755749-141755760 chr2:141755748-141755761 chr2:141755748-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759
7	CEBPB	chr2:141732860-141733107	HepG2	liver:	n/a	chr2:141732951-141732962 chr2:141732950-141732963 chr2:141732950-141732961
8	CEBPB	chr2:141787364-141787503	HepG2	liver:	n/a	chr2:141787451-141787462
9	CEBPB	chr2:141748038-141748534	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:141787284-141787628	A549	lung:	n/a	chr2:141787451-141787462
11	CEBPB	chr2:141755586-141755934	Hela-S3	cervix:	n/a	chr2:141755748-141755761 chr2:141755749-141755760 chr2:141755748-141755761 chr2:141755748-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759
12	CEBPB	chr2:141732771-141733140	IMR90	lung:	n/a	chr2:141732951-141732962 chr2:141732950-141732963 chr2:141732950-141732961
13	CEBPB	chr2:141787270-141787646	HepG2	liver:	n/a	chr2:141787451-141787462
14	CEBPB	chr2:141748148-141748484	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:141732791-141733123	Hela-S3	cervix:	n/a	chr2:141732951-141732962 chr2:141732950-141732963 chr2:141732950-141732961
16	CEBPB	chr2:141755574-141755952	IMR90	lung:	n/a	chr2:141755748-141755761 chr2:141755749-141755760 chr2:141755748-141755761 chr2:141755748-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759
17	CEBPB	chr2:141755615-141755895	A549	lung:	n/a	chr2:141755748-141755761 chr2:141755749-141755760 chr2:141755748-141755761 chr2:141755748-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759 chr2:141755750-141755759
18	CEBPB	chr2:141746174-141746463	Hela-S3	cervix:	n/a	chr2:141746296-141746307
19	CTCF	chr2:141722040-141722190	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:141722012-141722205	GM19240	blood:	n/a	n/a
21	CTCF	chr2:141722020-141722170	HRE	kidney:	n/a	n/a
22	CTCF	chr2:141722020-141722170	GM12874	blood:	n/a	n/a
23	CTCF	chr2:141721960-141722110	HAc	cerebellar:	n/a	n/a
24	CTCF	chr2:141722060-141722210	GM12868	blood:	n/a	n/a
25	CTCF	chr2:141722086-141722156	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr2:141721960-141722210	GM12873	blood:	n/a	n/a
27	CTCF	chr2:141722027-141722199	K562	blood:	n/a	n/a
28	CTCF	chr2:141721940-141722090	GM12867	blood:	n/a	n/a
29	CTCF	chr2:141722000-141722211	A549	lung:	n/a	n/a
30	CTCF	chr2:141722020-141722170	K562	blood:	n/a	n/a
31	CTCF	chr2:141721980-141722130	RPTEC	kidney:	n/a	n/a
32	CTCF	chr2:141721940-141722090	NHLF	lung:	n/a	n/a
33	CTCF	chr2:141721940-141722090	GM12869	blood:	n/a	n/a
34	CTCF	chr2:141721960-141722110	HVMF	connective:	n/a	n/a
35	CTCF	chr2:141727830-141727907	GM10248	blood:	n/a	n/a
36	CTCF	chr2:141721960-141722110	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:141721900-141722050	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr2:141722020-141722170	AG09309	skin:	n/a	n/a
39	CTCF	chr2:141721979-141722218	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:141721940-141722090	HCT-116	colon:	n/a	n/a
41	CTCF	chr2:141721940-141722090	AG10803	skin:	n/a	n/a
42	CTCF	chr2:141721940-141722090	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr2:141721999-141722193	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:141721900-141722050	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr2:141721872-141722362	A549	lung:	n/a	n/a
46	CTCF	chr2:141721900-141722050	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr2:141722000-141722150	GM12864	blood:	n/a	n/a
48	CTCF	chr2:141721940-141722090	HRE	kidney:	n/a	n/a
49	CTCF	chr2:141722000-141722150	GM12873	blood:	n/a	n/a
50	CTCF	chr2:141722020-141722170	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:141755389-141755439	HAEpiC	amniotic membrane:	n/a
2	chr2:141755389-141755439	AG10803	skin:	n/a
3	chr2:141787134-141787184	AG04449	skin:	fetal
4	chr2:141755389-141755439	HCT-116	colon:	n/a
5	chr2:141751626-141751676	BJ	skin:	n/a
6	chr2:141787134-141787184	HCF	heart:	n/a
7	chr2:141755389-141755439	H1-hESC	embryonic stem cell:	embryo
8	chr2:141787134-141787184	HRE	kidney:	n/a
9	chr2:141755389-141755439	CMK	blood:	n/a
10	chr2:141787134-141787184	ECC-1	luminal epithelium:	n/a
11	chr2:141787134-141787184	HCT-116	colon:	n/a
12	chr2:141755389-141755439	AG09309	skin:	n/a
13	chr2:141755389-141755439	HCF	heart:	n/a
14	chr2:141787134-141787184	HRCEpiC	kidney:	n/a
15	chr2:141751626-141751676	AG10803	skin:	n/a
16	chr2:141751626-141751676	AoSMC	blood vessel:	n/a
17	chr2:141787134-141787184	SAEC	small airway:	n/a
18	chr2:141755389-141755439	PFSK-1	brain:	n/a
19	chr2:141751626-141751676	IMR90	lung:	fetal
20	chr2:141755389-141755439	HRCEpiC	kidney:	n/a
21	chr2:141787134-141787184	GM12891	blood:	n/a
22	chr2:141755389-141755439	SKMC	muscle:	n/a
23	chr2:141751626-141751676	HEK293	kidney:	embryo
24	chr2:141755389-141755439	AG09319	gingival:	n/a
25	chr2:141787134-141787184	PANC-1	pancreas:	n/a
26	chr2:141755389-141755439	NT2-D1	testis:	n/a
27	chr2:141787134-141787184	NB4	blood:	n/a
28	chr2:141751626-141751676	ProgFib	skin:	n/a
29	chr2:141755389-141755439	SK-N-SH_RA	brain:	n/a
30	chr2:141751626-141751676	H1-hESC	embryonic stem cell:	embryo
31	chr2:141755389-141755439	BJ	skin:	n/a
32	chr2:141755389-141755439	U87	brain:	n/a
33	chr2:141755389-141755439	AG04449	skin:	fetal
34	chr2:141787134-141787184	PFSK-1	brain:	n/a
35	chr2:141787134-141787184	BJ	skin:	n/a
36	chr2:141787134-141787184	Caco-2	colon:	n/a
37	chr2:141751626-141751676	SK-N-SH_RA	brain:	n/a
38	chr2:141751626-141751676	BE2_C	brain:	n/a
39	chr2:141755389-141755439	HRE	kidney:	n/a
40	chr2:141755389-141755439	MCF10A-Er-Src	breast:	n/a
41	chr2:141751626-141751676	HCPEpiC	choroid plexus:	n/a
42	chr2:141751626-141751676	HRPEpiC	eye:	n/a
43	chr2:141787134-141787184	ProgFib	skin:	n/a
44	chr2:141751626-141751676	GM06990	blood:	n/a
45	chr2:141751626-141751676	GM12892	blood:	n/a
46	chr2:141755389-141755439	ProgFib	skin:	n/a
47	chr2:141755389-141755439	Hela-S3	cervix:	n/a
48	chr2:141787134-141787184	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:141751626-141751676	HAEpiC	amniotic membrane:	n/a
50	chr2:141755389-141755439	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:141736437..141738156-chr2:141740284..141742486,2	MCF-7	breast:
2	chr2:141736437..141738156-chr2:141740284..141742486,2	MCF-7	breast:
3	chr2:141785789..141788273-chr2:141812722..141815557,2	MCF-7	breast:
4	chr2:141747914..141749920-chr2:141751222..141752876,2	MCF-7	breast:
5	chr2:141747914..141749920-chr2:141751222..141752876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201892	TF binding region
ENSG00000201892	CpG island

Extended variants
information (count: 2306 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2306 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540635847	chr2:141709205-141709206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114775629	chr2:141709224-141709225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186127658	chr2:141709234-141709235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190588808	chr2:141709245-141709246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115345473	chr2:141709252-141709253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529273768	chr2:141709270-141709271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148857906	chr2:141709294-141709295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182811783	chr2:141709295-141709296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374370163	chr2:141709300-141709301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531361074	chr2:141709313-141709314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551600351	chr2:141709314-141709315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571018870	chr2:141709338-141709339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571440255	chr2:141709373-141709374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72990186	chr2:141709375-141709376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368798350	chr2:141709378-141709379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200225277	chr2:141709400-141709401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369071753	chr2:141709404-141709405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1991540	chr2:141709406-141709407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112390373	chr2:141709415-141709416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1429348	chr2:141709419-141709420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146639012	chr2:141709436-141709437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28483746	chr2:141709464-141709465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563524207	chr2:141709477-141709478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187157893	chr2:141709478-141709479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373525519	chr2:141709544-141709545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150923045	chr2:141709560-141709561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191392144	chr2:141709561-141709562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560431228	chr2:141709570-141709571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140824761	chr2:141709571-141709572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542616913	chr2:141709573-141709574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562639744	chr2:141709591-141709592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538321290	chr2:141709592-141709593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75134986	chr2:141709683-141709684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565116401	chr2:141709714-141709715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144836935	chr2:141709730-141709731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547677619	chr2:141709768-141709769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567573628	chr2:141709801-141709802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567065113	chr2:141709851-141709852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570185226	chr2:141709852-141709853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536205525	chr2:141709860-141709861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182765716	chr2:141709901-141709902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569636414	chr2:141709914-141709915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28657603	chr2:141709947-141709948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113182226	chr2:141709951-141709952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560067714	chr2:141709984-141709985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538756870	chr2:141709988-141709989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558393667	chr2:141710022-141710023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79918906	chr2:141710031-141710032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534134074	chr2:141710038-141710039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57420326	chr2:141710051-141710052	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141709200-141710400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:141709400-141709800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:141709400-141710000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:141719600-141721400	Enhancers	Dnd41	blood
5	chr2:141719600-141722000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:141721400-141728400	Weak transcription	Dnd41	blood
7	chr2:141722400-141722600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:141722400-141722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:141722600-141723000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:141722600-141723000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:141728400-141729800	Enhancers	Dnd41	blood
12	chr2:141729400-141730400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:141729600-141730000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:141729600-141730200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:141729800-141732600	Weak transcription	Dnd41	blood
16	chr2:141732400-141733200	Enhancers	HUVEC	blood vessel
17	chr2:141732600-141733200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:141732600-141733200	Enhancers	Dnd41	blood
19	chr2:141732600-141733400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:141732600-141733800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:141733000-141733400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:141736000-141737200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:141736400-141737200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:141743800-141744400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:141743800-141744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:141743800-141744800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:141744000-141744400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:141744000-141744400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:141744000-141744800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:141744400-141746800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:141745400-141746400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:141745400-141746400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:141745600-141746800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:141745600-141747200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:141745600-141747200	Enhancers	HUVEC	blood vessel
36	chr2:141745800-141748200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:141746000-141747200	Enhancers	Hela-S3	cervix
38	chr2:141746400-141746600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:141746400-141746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:141746600-141747000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:141746800-141747000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:141746800-141747200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:141746800-141748200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:141747000-141747200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:141747000-141748800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:141747000-141749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:141747200-141748200	Weak transcription	Hela-S3	cervix
48	chr2:141747200-141748400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:141747200-141748600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:141747200-141753600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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