Variant report

Variant	nsv834521
Chromosome Location	chr2:211918881-212057872
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	ARID3A	chr2:211949808-211950164	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:211926380-211926665	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:211958451-211958883	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:212022640-212022955	HepG2	liver:	n/a	n/a
5	BACH1	chr2:212008796-212009176	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:212008822-212009185	K562	blood:	n/a	n/a
7	BCL3	chr2:211990245-211990455	GM12878	blood:	n/a	n/a
8	BRCA1	chr2:212038171-212038226	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:211992314-211992702	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:212012508-212012853	Hela-S3	cervix:	n/a	chr2:212012667-212012678 chr2:212012666-212012677 chr2:212012666-212012679
11	CEBPB	chr2:211982668-211982985	Hela-S3	cervix:	n/a	chr2:211982801-211982812 chr2:211982799-211982812 chr2:211982799-211982810 chr2:211982799-211982812 chr2:211982801-211982810
12	CEBPB	chr2:211927761-211928066	H1-hESC	embryonic stem cell:	n/a	chr2:211927924-211927935
13	CEBPB	chr2:211927814-211927993	HepG2	liver:	n/a	chr2:211927924-211927935
14	CEBPB	chr2:212032861-212033194	Hela-S3	cervix:	n/a	chr2:212033014-212033025
15	CEBPB	chr2:212012498-212012729	A549	lung:	n/a	chr2:212012667-212012678 chr2:212012666-212012677 chr2:212012666-212012679
16	CEBPB	chr2:212008905-212009216	A549	lung:	n/a	n/a
17	CEBPB	chr2:211925139-211925179	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:211921844-211922080	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:211927791-211928102	A549	lung:	n/a	chr2:211927924-211927935
20	CEBPB	chr2:212008809-212009294	HCT-116	colon:	n/a	n/a
21	CEBPB	chr2:212008866-212009090	IMR90	lung:	n/a	n/a
22	CEBPB	chr2:211997327-211997736	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:212041242-212041442	A549	lung:	n/a	chr2:212041322-212041333
24	CEBPB	chr2:211956669-211956869	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:211927826-211928093	MCF-7	breast:	n/a	chr2:211927924-211927935
26	CEBPB	chr2:211989455-211989654	HepG2	liver:	n/a	chr2:211989481-211989492
27	CEBPB	chr2:211925027-211925378	HepG2	liver:	n/a	chr2:211925216-211925227
28	CEBPB	chr2:212012498-212012839	HepG2	liver:	n/a	chr2:212012667-212012678 chr2:212012666-212012677 chr2:212012666-212012679
29	CEBPB	chr2:211942142-211942342	HepG2	liver:	n/a	chr2:211942290-211942301
30	CEBPB	chr2:212041214-212041476	HepG2	liver:	n/a	chr2:212041322-212041333
31	CEBPB	chr2:212008908-212009102	MCF-7	breast:	n/a	n/a
32	CEBPB	chr2:212008873-212009210	HCT-116	colon:	n/a	n/a
33	CEBPB	chr2:212008824-212009539	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr2:211927748-211928100	HepG2	liver:	n/a	chr2:211927924-211927935
35	CEBPB	chr2:212008709-212009355	A549	lung:	n/a	n/a
36	CEBPB	chr2:211982704-211982943	A549	lung:	n/a	chr2:211982801-211982812 chr2:211982799-211982812 chr2:211982799-211982810 chr2:211982799-211982812 chr2:211982801-211982810
37	CEBPB	chr2:211982666-211982990	HepG2	liver:	n/a	chr2:211982801-211982812 chr2:211982799-211982812 chr2:211982799-211982810 chr2:211982799-211982812 chr2:211982801-211982810
38	CEBPB	chr2:211989455-211989511	H1-hESC	embryonic stem cell:	n/a	chr2:211989481-211989492
39	CEBPB	chr2:211982650-211982985	IMR90	lung:	n/a	chr2:211982801-211982812 chr2:211982799-211982812 chr2:211982799-211982810 chr2:211982799-211982812 chr2:211982801-211982810
40	CEBPB	chr2:212008816-212009250	MCF-7	breast:	n/a	n/a
41	CEBPB	chr2:212032862-212033211	HepG2	liver:	n/a	chr2:212033014-212033025
42	CEBPB	chr2:212008782-212009115	A549	lung:	n/a	n/a
43	CEBPB	chr2:211927767-211928096	IMR90	lung:	n/a	chr2:211927924-211927935
44	CHD2	chr2:211920216-211920561	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:211949875-211950082	LNCaP	prostate:	n/a	chr2:211949982-211949992 chr2:211949978-211949994 chr2:211949980-211949989 chr2:211949979-211950000 chr2:211949977-211949995
46	CTCF	chr2:211958560-211958710	AG10803	skin:	n/a	chr2:211958610-211958628 chr2:211958605-211958626 chr2:211958611-211958627
47	CTCF	chr2:212022644-212022896	T-47D	breast:	n/a	chr2:212022756-212022777 chr2:212022761-212022779 chr2:212022767-212022776 chr2:212022762-212022778 chr2:212022764-212022774
48	CTCF	chr2:211969840-211969990	HepG2	liver:	n/a	n/a
49	CTCF	chr2:212022629-212022910	Spleen_OC	spleen:	n/a	chr2:212022756-212022777 chr2:212022761-212022779 chr2:212022767-212022776 chr2:212022762-212022778 chr2:212022764-212022774
50	CTCF	chr2:211958540-211958690	HCPEpiC	choroid plexus:	n/a	chr2:211958610-211958628 chr2:211958605-211958626 chr2:211958611-211958627

No.	Distal block	Cell Line	Cell type
1	chr2:211949726..211950394-chr2:212022355..212023014,3	MCF-7	breast:
2	chr2:212042472..212044097-chr2:212046243..212049125,2	K562	blood:
3	chr2:211918949..211922416-chr2:211922605..211926396,3	MCF-7	breast:
4	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:
5	chr2:212048363..212050986-chr2:212055468..212057547,3	K562	blood:
6	chr2:212042472..212044097-chr2:212046243..212049125,2	K562	blood:
7	chr2:212022243..212024951-chr2:212075273..212077446,2	MCF-7	breast:
8	chr2:212048363..212050986-chr2:212055897..212057547,2	K562	blood:
9	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
10	chr2:211949706..211950500-chr2:212022258..212023250,2	MCF-7	breast:
11	chr2:212022878..212025223-chr2:212045457..212047124,2	K562	blood:
12	chr2:211949726..211950394-chr2:212022355..212023014,3	MCF-7	breast:
13	chr2:211958444..211959027-chr2:212022593..212023191,2	MCF-7	breast:
14	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:
15	chr2:211951231..211952004-chr2:212022300..212022853,2	MCF-7	breast:
16	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:
17	chr2:212048363..212050986-chr2:212055897..212057547,2	K562	blood:
18	chr2:211898222..211899132-chr2:211949475..211950082,2	MCF-7	breast:
19	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:
20	chr2:211951231..211952004-chr2:212022300..212022853,2	MCF-7	breast:
21	chr2:211920134..211920765-chr2:211949746..211950414,2	MCF-7	breast:
22	chr2:211958444..211959027-chr2:212022593..212023191,2	MCF-7	breast:
23	chr2:211949706..211950500-chr2:212022258..212023250,2	MCF-7	breast:
24	chr2:211528012..211528782-chr2:211919888..211920455,2	MCF-7	breast:
25	chr2:211482310..211483112-chr2:212022669..212023186,2	MCF-7	breast:
26	chr2:212048363..212050986-chr2:212055468..212057547,3	K562	blood:
27	chr2:211918949..211922416-chr2:211922605..211926396,3	MCF-7	breast:
28	chr2:211949622..211950636-chr2:213412760..213413513,3	MCF-7	breast:
29	chr2:211920134..211920765-chr2:211949746..211950414,2	MCF-7	breast:
30	chr2:212055110..212056655-chr2:212069046..212071730,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPS1-3	chr2:211969658-211970456	NONHSAT076684

Variant related genes	Relation type
ENSG00000271074	TF binding region

Extended variants
information (count: 3485 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3485 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537152353	chr2:211925219-211925220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369383926	chr2:211925266-211925267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571938960	chr2:211925313-211925314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78687612	chr2:211925329-211925330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542137146	chr2:211925345-211925346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188196436	chr2:211925433-211925434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572795121	chr2:211925475-211925476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192617813	chr2:211925526-211925527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551472415	chr2:211925539-211925540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551116124	chr2:211925543-211925544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564476743	chr2:211925553-211925554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113746235	chr2:211925561-211925562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147328718	chr2:211925576-211925577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371795254	chr2:211925580-211925581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543934777	chr2:211925581-211925582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76594625	chr2:211925587-211925588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529111615	chr2:211925647-211925648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548784512	chr2:211925657-211925658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565603109	chr2:211925702-211925703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112408805	chr2:211925706-211925707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550914578	chr2:211925723-211925724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571266786	chr2:211925749-211925750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536732615	chr2:211925796-211925797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371946934	chr2:211925797-211925798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189014902	chr2:211925806-211925807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567272576	chr2:211925828-211925829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146206087	chr2:211925835-211925836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374881602	chr2:211925852-211925853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565415259	chr2:211925924-211925925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556341697	chr2:211925967-211925968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369299592	chr2:211926004-211926005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139163370	chr2:211926008-211926009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59226190	chr2:211926024-211926025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149463508	chr2:211926028-211926029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558176513	chr2:211926059-211926060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569713193	chr2:211926072-211926073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184708213	chr2:211926092-211926093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189058149	chr2:211926101-211926102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141709361	chr2:211926123-211926124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375475941	chr2:211926127-211926128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181493971	chr2:211926172-211926173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558447524	chr2:211926243-211926244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113369456	chr2:211926282-211926283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542371457	chr2:211926303-211926304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199770330	chr2:211926306-211926307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559125862	chr2:211926318-211926319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528367128	chr2:211926337-211926338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201534896	chr2:211926385-211926386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551297461	chr2:211926394-211926395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376437022	chr2:211926418-211926419	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211925200-211925400	Enhancers	Fetal Intestine Large	intestine
2	chr2:211925400-211926400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:211925600-211926600	Enhancers	Fetal Intestine Small	intestine
4	chr2:211926200-211926600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:211926200-211927200	Enhancers	HepG2	liver
6	chr2:211926400-211927200	Enhancers	Liver	Liver
7	chr2:211926400-211927200	Enhancers	Fetal Intestine Large	intestine
8	chr2:211926400-211927400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:211926600-211926800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:211926800-211927600	Enhancers	Adipose Nuclei	Adipose
11	chr2:211928400-211930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:211930600-211930800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:211932600-211933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:211941800-211943200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:211942400-211943000	Enhancers	Brain Germinal Matrix	brain
16	chr2:211943000-211949200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:211949000-211950200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:211949200-211949400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:211949200-211950000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:211949200-211950000	Enhancers	Brain Germinal Matrix	brain
21	chr2:211949400-211950400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:211950000-211951200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:211950200-211950600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:211950200-211950600	Enhancers	HSMMtube	muscle
25	chr2:211950400-211950600	Enhancers	HSMM	muscle
26	chr2:211950400-211951400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:211950400-211951600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:211950600-211951400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:211951200-211952000	Enhancers	Brain Germinal Matrix	brain
30	chr2:211953800-211954800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:211958000-211958200	Enhancers	Liver	Liver
32	chr2:211958200-211962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:211958800-211959000	Enhancers	Liver	Liver
34	chr2:211968600-211969200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:211968600-211969200	Enhancers	Brain Germinal Matrix	brain
36	chr2:211968600-211969200	Enhancers	Brain Substantia Nigra	brain
37	chr2:211968600-211969200	Enhancers	Fetal Intestine Small	intestine
38	chr2:211968600-211969200	Enhancers	Fetal Muscle Leg	muscle
39	chr2:211968600-211969400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:211968600-211969400	Enhancers	Fetal Intestine Large	intestine
41	chr2:211968800-211969200	Enhancers	Liver	Liver
42	chr2:211968800-211969200	Enhancers	HSMM	muscle
43	chr2:211968800-211969200	Enhancers	HSMMtube	muscle
44	chr2:211969200-211969600	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:211969600-211970000	Enhancers	Fetal Muscle Leg	muscle
46	chr2:211970000-211970200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:211970200-211970400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:211974000-211974200	Enhancers	HSMM	muscle
49	chr2:211974200-211979800	Weak transcription	HSMM	muscle
50	chr2:211977600-211979200	Enhancers	Liver	Liver

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