Variant report

Variant	nsv998029
Chromosome Location	chr2:210751692-210838759
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	chr2:210825759-210826137	K562	blood:	n/a	n/a
2	ATF2	chr2:210825396-210825959	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:210825382-210826023	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr2:210825543-210825544	GM12878	blood:	n/a	n/a
5	BRCA1	chr2:210757120-210757279	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:210810957-210811171	HepG2	liver:	n/a	chr2:210811004-210811015
7	CEBPB	chr2:210838322-210838576	A549	lung:	n/a	chr2:210838439-210838448 chr2:210838439-210838450 chr2:210838437-210838448 chr2:210838437-210838450
8	CEBPB	chr2:210834970-210835351	HepG2	liver:	n/a	chr2:210835151-210835164 chr2:210835151-210835162 chr2:210835152-210835163
9	CEBPB	chr2:210820658-210820887	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:210835038-210835400	MCF-7	breast:	n/a	chr2:210835151-210835164 chr2:210835151-210835162 chr2:210835152-210835163
11	CEBPB	chr2:210838265-210838642	HepG2	liver:	n/a	chr2:210838439-210838448 chr2:210838439-210838450 chr2:210838437-210838448 chr2:210838437-210838450
12	CEBPB	chr2:210820698-210820936	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:210835060-210835263	H1-hESC	embryonic stem cell:	n/a	chr2:210835151-210835164 chr2:210835151-210835162 chr2:210835152-210835163
14	CEBPZ	chr2:210792409-210792546	HepG2	liver:	n/a	n/a
15	CHD2	chr2:210825874-210825935	GM12878	blood:	n/a	n/a
16	CTCF	chr2:210825840-210825990	Caco-2	colon:	n/a	n/a
17	CTCF	chr2:210801080-210801230	HPAF	blood vessel:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
18	CTCF	chr2:210801100-210801250	AG04449	skin:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
19	CTCF	chr2:210777483-210777568	MCF-7	breast:	n/a	chr2:210777524-210777545
20	CTCF	chr2:210777538-210777551	GM12878	blood:	n/a	n/a
21	CTCF	chr2:210825815-210826032	Fibrobl	skin:	n/a	n/a
22	CTCF	chr2:210798460-210798610	RPTEC	kidney:	n/a	n/a
23	CTCF	chr2:210825729-210826167	GM12878	blood:	n/a	n/a
24	CTCF	chr2:210825821-210826045	ProgFib	skin:	n/a	n/a
25	CTCF	chr2:210825860-210826010	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr2:210825820-210825970	GM12869	blood:	n/a	n/a
27	CTCF	chr2:210801120-210801270	HPF	lung:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
28	CTCF	chr2:210801080-210801230	HCFaa	heart:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
29	CTCF	chr2:210801040-210801190	HAc	cerebellar:	n/a	n/a
30	CTCF	chr2:210825900-210826050	GM12875	blood:	n/a	n/a
31	CTCF	chr2:210798340-210798490	MCF-7	breast:	n/a	chr2:210798384-210798400 chr2:210798378-210798399 chr2:210798383-210798401
32	CTCF	chr2:210801104-210801276	Spleen_OC	spleen:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
33	CTCF	chr2:210825789-210826089	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr2:210801080-210801230	HMF	breast:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
35	CTCF	chr2:210825880-210825973	GM12891	blood:	n/a	n/a
36	CTCF	chr2:210825737-210826066	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr2:210801060-210801210	BE2_C	brain:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
38	CTCF	chr2:210825880-210826030	GM12871	blood:	n/a	n/a
39	CTCF	chr2:210825840-210825990	BE2_C	brain:	n/a	n/a
40	CTCF	chr2:210801040-210801190	SAEC	small airway:	n/a	n/a
41	CTCF	chr2:210801100-210801250	MCF-7	breast:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
42	CTCF	chr2:210834140-210834290	HFF	foreskin:	n/a	n/a
43	CTCF	chr2:210801115-210801298	Gliobla	brain:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
44	CTCF	chr2:210825780-210825930	NHEK	skin:	n/a	n/a
45	CTCF	chr2:210801160-210801310	Caco-2	colon:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
46	CTCF	chr2:210825860-210826010	GM12872	blood:	n/a	n/a
47	CTCF	chr2:210825840-210825990	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr2:210801113-210801297	MCF-7	breast:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
49	CTCF	chr2:210801080-210801230	HEK293	kidney:	n/a	chr2:210801186-210801207 chr2:210801184-210801202
50	CTCF	chr2:210825820-210825970	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210824770-210824820	A549	lung:	n/a
2	chr2:210824069-210824119	AG09309	skin:	n/a
3	chr2:210824069-210824119	HepG2	liver:	n/a
4	chr2:210824770-210824820	SKMC	muscle:	n/a
5	chr2:210824770-210824820	HRCEpiC	kidney:	n/a
6	chr2:210824770-210824820	HNPCEpiC	eye:	n/a
7	chr2:210822981-210823031	AoSMC	blood vessel:	n/a
8	chr2:210824069-210824119	PANC-1	pancreas:	n/a
9	chr2:210824069-210824119	HCM	heart:	n/a
10	chr2:210824770-210824820	HUVEC	blood vessel:	n/a
11	chr2:210824069-210824119	GM12892	blood:	n/a
12	chr2:210824770-210824820	GM12892	blood:	n/a
13	chr2:210824069-210824119	HMEC	breast:	n/a
14	chr2:210824069-210824119	HEK293	kidney:	embryo
15	chr2:210824770-210824820	HEK293	kidney:	embryo
16	chr2:210824069-210824119	SK-N-SH	brain:	n/a
17	chr2:210822981-210823031	GM12891	blood:	n/a
18	chr2:210822981-210823031	PrEC	prostate:	n/a
19	chr2:210822981-210823031	NB4	blood:	n/a
20	chr2:210822981-210823031	CMK	blood:	n/a
21	chr2:210824069-210824119	NT2-D1	testis:	n/a
22	chr2:210824069-210824119	RPTEC	kidney:	n/a
23	chr2:210822981-210823031	AG09319	gingival:	n/a
24	chr2:210824069-210824119	AG09319	gingival:	n/a
25	chr2:210824770-210824820	GM12878	blood:	n/a
26	chr2:210822981-210823031	ProgFib	skin:	n/a
27	chr2:210822981-210823031	NHDF-neo	bronchial:	n/a
28	chr2:210824770-210824820	HIPEpiC	eye:	n/a
29	chr2:210824770-210824820	SK-N-SH	brain:	n/a
30	chr2:210824069-210824119	AoSMC	blood vessel:	n/a
31	chr2:210822981-210823031	SKMC	muscle:	n/a
32	chr2:210824069-210824119	GM12891	blood:	n/a
33	chr2:210824069-210824119	CMK	blood:	n/a
34	chr2:210824770-210824820	HepG2	liver:	n/a
35	chr2:210824069-210824119	GM06990	blood:	n/a
36	chr2:210824069-210824119	HRCEpiC	kidney:	n/a
37	chr2:210822981-210823031	SK-N-SH_RA	brain:	n/a
38	chr2:210822981-210823031	HRPEpiC	eye:	n/a
39	chr2:210824770-210824820	AG09309	skin:	n/a
40	chr2:210824069-210824119	HIPEpiC	eye:	n/a
41	chr2:210824069-210824119	H1-hESC	embryonic stem cell:	embryo
42	chr2:210824770-210824820	ECC-1	luminal epithelium:	n/a
43	chr2:210822981-210823031	GM19239	blood:	n/a
44	chr2:210824069-210824119	NH-A	brain:	n/a
45	chr2:210824770-210824820	PANC-1	pancreas:	n/a
46	chr2:210824770-210824820	NH-A	brain:	n/a
47	chr2:210824069-210824119	ECC-1	luminal epithelium:	n/a
48	chr2:210822981-210823031	HRCEpiC	kidney:	n/a
49	chr2:210824770-210824820	LNCaP	prostate:	n/a
50	chr2:210822981-210823031	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
2	chr17:60081482..60082326-chr2:210773823..210774820,2	MCF-7	breast:
3	chr2:210836086..210838392-chr2:211035662..211037229,2	MCF-7	breast:
4	chr2:210800457..210801047-chr2:211060284..211060881,2	MCF-7	breast:
5	chr2:210837363..210839255-chr2:210840303..210841823,2	K562	blood:

Variant related genes	Relation type
UNC80	TF binding region
UNC80	CpG island
ENSG00000144445	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000231294	chromatin interactions

Extended variants
information (count: 2995 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2995 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530294128	chr2:210751709-210751710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546935714	chr2:210751716-210751717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182950613	chr2:210751726-210751727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560422875	chr2:210751740-210751741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532619956	chr2:210751744-210751745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372616280	chr2:210751745-210751746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539871568	chr2:210751762-210751763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568478614	chr2:210751861-210751862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531337973	chr2:210751916-210751917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139582590	chr2:210751923-210751924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568207605	chr2:210751956-210751957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371051113	chr2:210751961-210751962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533983453	chr2:210751967-210751968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578196997	chr2:210751989-210751990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377492958	chr2:210752012-210752013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34945276	chr2:210752019-210752020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553971074	chr2:210752039-210752040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186705941	chr2:210752053-210752054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191040551	chr2:210752089-210752090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374598686	chr2:210752092-210752093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539717758	chr2:210752094-210752095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559008904	chr2:210752100-210752101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149583735	chr2:210752106-210752107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544408066	chr2:210752134-210752135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555043709	chr2:210752158-210752159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574798044	chr2:210752182-210752183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540429533	chr2:210752214-210752215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560285159	chr2:210752257-210752258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532679808	chr2:210752280-210752281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182864515	chr2:210752323-210752324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187460969	chr2:210752341-210752342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531332429	chr2:210752381-210752382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191250043	chr2:210752406-210752407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568159604	chr2:210752454-210752455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183448008	chr2:210752567-210752568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144293410	chr2:210752618-210752619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571382730	chr2:210752623-210752624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187686348	chr2:210752675-210752676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371213076	chr2:210752721-210752722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148709256	chr2:210752762-210752763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556477199	chr2:210752798-210752799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371515468	chr2:210752802-210752803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144627704	chr2:210752824-210752825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192242889	chr2:210752849-210752850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554620858	chr2:210752895-210752896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574897561	chr2:210752896-210752897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370008905	chr2:210752905-210752906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372576235	chr2:210752911-210752912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147888104	chr2:210752920-210752921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553978269	chr2:210752951-210752952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210682000-210769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:210733200-210791400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:210735400-210769400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210737800-210769400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:210737800-210772400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:210741600-210761000	Weak transcription	Fetal Brain Female	brain
7	chr2:210742400-210758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:210742600-210761000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210742600-210798000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:210743000-210765600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:210745600-210789000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:210745800-210762200	Weak transcription	Fetal Brain Male	brain
13	chr2:210758000-210758600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:210758600-210761000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:210759000-210759200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:210759000-210759400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:210759000-210759400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:210760800-210761000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:210761000-210761400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:210761000-210762200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:210761400-210762200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:210762200-210762400	Active TSS	Fetal Brain Male	brain
23	chr2:210762200-210768600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:210762200-210769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:210765600-210766400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:210766400-210769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:210767000-210767600	Enhancers	Hela-S3	cervix
28	chr2:210768600-210769600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:210768800-210769600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:210769400-210770600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:210769400-210770800	Strong transcription	Brain Anterior Caudate	brain
32	chr2:210769400-210770800	Strong transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:210769600-210769800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:210769600-210770600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:210769600-210778600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:210769800-210772200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:210770600-210773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:210770600-210776400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:210770600-210785000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:210770800-210772200	Weak transcription	Brain Anterior Caudate	brain
41	chr2:210770800-210773400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:210771800-210772200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:210772200-210772600	Enhancers	Brain Anterior Caudate	brain
44	chr2:210772200-210772600	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:210772200-210773000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:210772400-210772800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:210772600-210791400	Weak transcription	Brain Anterior Caudate	brain
48	chr2:210772800-210786200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:210773000-210786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:210773200-210773400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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