Variant report

Variant	nsv10092
Chromosome Location	chr2:96371477-96472844
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	chr2:96394384-96394976	HepG2	liver:	n/a	n/a
2	BATF	chr2:96389586-96389891	GM12878	blood:	n/a	n/a
3	BATF	chr2:96373042-96373284	GM12878	blood:	n/a	chr2:96373152-96373163
4	BATF	chr2:96389629-96389835	GM12878	blood:	n/a	n/a
5	BATF	chr2:96373017-96373229	GM12878	blood:	n/a	chr2:96373152-96373163
6	BATF	chr2:96401104-96401456	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:96442951-96443157	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:96401104-96401290	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:96401015-96401259	GM12878	blood:	n/a	n/a
10	BCL3	chr2:96468045-96468276	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:96394763-96394892	GM12878	blood:	n/a	n/a
12	CBX3	chr2:96432533-96432779	K562	blood:	n/a	n/a
13	CEBPB	chr2:96394289-96395327	IMR90	lung:	n/a	chr2:96394419-96394430 chr2:96394419-96394432
14	CEBPB	chr2:96394342-96395320	A549	lung:	n/a	chr2:96394419-96394430 chr2:96394419-96394432
15	CEBPB	chr2:96394709-96395335	K562	blood:	n/a	n/a
16	CEBPB	chr2:96394684-96394919	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:96394654-96395269	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:96426939-96427088	HepG2	liver:	n/a	chr2:96427040-96427051
19	CEBPB	chr2:96394316-96394473	K562	blood:	n/a	chr2:96394419-96394430 chr2:96394419-96394432
20	CEBPB	chr2:96426902-96427182	MCF-7	breast:	n/a	chr2:96427040-96427051
21	CEBPB	chr2:96426837-96427246	IMR90	lung:	n/a	chr2:96427040-96427051
22	CEBPB	chr2:96426884-96427208	Hela-S3	cervix:	n/a	chr2:96427040-96427051
23	CEBPB	chr2:96391404-96391735	IMR90	lung:	n/a	n/a
24	CEBPB	chr2:96394271-96395330	HepG2	liver:	n/a	chr2:96394419-96394430 chr2:96394419-96394432
25	CTCF	chr2:96394646-96394995	T-47D	breast:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
26	CTCF	chr2:96423158-96423214	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr2:96435737-96435747	LNCaP	prostate:	n/a	n/a
28	CTCF	chr2:96394740-96394890	GM12867	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
29	CTCF	chr2:96395060-96395330	HCFaa	heart:	n/a	n/a
30	CTCF	chr2:96394720-96394870	HRPEpiC	eye:	n/a	chr2:96394849-96394870
31	CTCF	chr2:96394660-96394810	GM12875	blood:	n/a	n/a
32	CTCF	chr2:96401222-96401252	Lung_OC	lung:	n/a	n/a
33	CTCF	chr2:96455952-96456330	K562	blood:	n/a	n/a
34	CTCF	chr2:96441001-96441166	Pancreas_OC	pancreas:	n/a	chr2:96441089-96441107
35	CTCF	chr2:96394753-96394984	GM13977	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
36	CTCF	chr2:96394440-96394502	GM13976	blood:	n/a	n/a
37	CTCF	chr2:96394840-96394990	GM12864	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
38	CTCF	chr2:96394621-96395031	IMR90	lung:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
39	CTCF	chr2:96394702-96395027	A549	lung:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
40	CTCF	chr2:96394800-96394950	GM12871	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
41	CTCF	chr2:96394800-96394950	GM12878	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
42	CTCF	chr2:96456090-96456211	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:96394733-96394946	MCF-7	breast:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
44	CTCF	chr2:96394800-96394950	WI-38	lung:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
45	CTCF	chr2:96440981-96441223	A549	lung:	n/a	chr2:96441089-96441107
46	CTCF	chr2:96436404-96436473	LNCaP	prostate:	n/a	n/a
47	CTCF	chr2:96394780-96394930	GM12864	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
48	CTCF	chr2:96394810-96394958	GM20000	blood:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
49	CTCF	chr2:96394730-96394951	MCF-7	breast:	n/a	chr2:96394849-96394870 chr2:96394854-96394872
50	CTCF	chr2:96429835-96429911	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96458247-96458297	Hela-S3	cervix:	n/a
2	chr2:96458247-96458297	U87	brain:	n/a
3	chr2:96458247-96458297	RPTEC	kidney:	n/a
4	chr2:96427173-96427223	ECC-1	luminal epithelium:	n/a
5	chr2:96427173-96427223	H1-hESC	embryonic stem cell:	embryo
6	chr2:96458247-96458297	GM19239	blood:	n/a
7	chr2:96458247-96458297	AG09309	skin:	n/a
8	chr2:96458247-96458297	NB4	blood:	n/a
9	chr2:96458247-96458297	T-47D	breast:	n/a
10	chr2:96458247-96458297	AG10803	skin:	n/a
11	chr2:96458247-96458297	HUVEC	blood vessel:	n/a
12	chr2:96458247-96458297	PrEC	prostate:	n/a
13	chr2:96427173-96427223	AoSMC	blood vessel:	n/a
14	chr2:96427173-96427223	T-47D	breast:	n/a
15	chr2:96458247-96458297	HRE	kidney:	n/a
16	chr2:96458247-96458297	Caco-2	colon:	n/a
17	chr2:96427173-96427223	NHBE	bronchial:	n/a
18	chr2:96458247-96458297	SK-N-SH	brain:	n/a
19	chr2:96427173-96427223	Hepatocyte	liver:	n/a
20	chr2:96458247-96458297	AG04450	lung:	fetal
21	chr2:96458247-96458297	NT2-D1	testis:	n/a
22	chr2:96427173-96427223	NB4	blood:	n/a
23	chr2:96427173-96427223	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:96427173-96427223	ProgFib	skin:	n/a
25	chr2:96427173-96427223	SK-N-SH	brain:	n/a
26	chr2:96427173-96427223	IMR90	lung:	fetal
27	chr2:96427173-96427223	AG10803	skin:	n/a
28	chr2:96427173-96427223	HNPCEpiC	eye:	n/a
29	chr2:96458247-96458297	HCM	heart:	n/a
30	chr2:96458247-96458297	BJ	skin:	n/a
31	chr2:96458247-96458297	BE2_C	brain:	n/a
32	chr2:96427173-96427223	RPTEC	kidney:	n/a
33	chr2:96427173-96427223	GM19239	blood:	n/a
34	chr2:96458247-96458297	PFSK-1	brain:	n/a
35	chr2:96427173-96427223	HEK293	kidney:	embryo
36	chr2:96427173-96427223	HRPEpiC	eye:	n/a
37	chr2:96458247-96458297	GM12878	blood:	n/a
38	chr2:96427173-96427223	NT2-D1	testis:	n/a
39	chr2:96427173-96427223	PrEC	prostate:	n/a
40	chr2:96458247-96458297	Jurkat	blood:	n/a
41	chr2:96458247-96458297	HCT-116	colon:	n/a
42	chr2:96427173-96427223	HEEpiC	esophagus:	n/a
43	chr2:96427173-96427223	GM12878	blood:	n/a
44	chr2:96427173-96427223	HepG2	liver:	n/a
45	chr2:96458247-96458297	SK-N-SH_RA	brain:	n/a
46	chr2:96427173-96427223	HCT-116	colon:	n/a
47	chr2:96427173-96427223	A549	lung:	n/a
48	chr2:96427173-96427223	BE2_C	brain:	n/a
49	chr2:96427173-96427223	CMK	blood:	n/a
50	chr2:96427173-96427223	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96406055..96406842-chr2:114139694..114140465,2	MCF-7	breast:
2	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
3	chr2:96058513..96059040-chr2:96394487..96395166,2	MCF-7	breast:
4	chr2:96079865..96080377-chr2:96394455..96395330,2	K562	blood:
5	chr2:96054886..96055732-chr2:96394556..96395496,2	MCF-7	breast:
6	chr2:96054639..96055198-chr2:96394784..96395584,2	K562	blood:
7	chr2:96054634..96055511-chr2:96394406..96395211,2	MCF-7	breast:
8	chr13:60970490..60971024-chr2:96378837..96379342,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-1	chr2:96472813-96473050	NONHSAT072510
2	lnc-ANKRD36C-2	chr2:96383793-96384234	XLOC_002206
3	lnc-ANKRD36C-1	chr2:96472800-96473050	NONHSAT072509
4	lnc-ANKRD36C-2	chr2:96379286-96379320	XLOC_002206

Variant related genes	Relation type
ENSG00000237510	TF binding region
ENSG00000237510	CpG island
ENSG00000083544	chromatin interactions
ENSG00000248821	chromatin interactions

Extended variants
information (count: 1560 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577673793	chr2:96371480-96371481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186404578	chr2:96371544-96371545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570950638	chr2:96371547-96371548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537834382	chr2:96371575-96371576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557247253	chr2:96371591-96371592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72821452	chr2:96371641-96371642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367575516	chr2:96371698-96371699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542986151	chr2:96371722-96371723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544933387	chr2:96371892-96371893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188800176	chr2:96371914-96371915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560070019	chr2:96371952-96371953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527331209	chr2:96372076-96372077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181608339	chr2:96372089-96372090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186162774	chr2:96372160-96372161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113969296	chr2:96372173-96372174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145159621	chr2:96372174-96372175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371413864	chr2:96372259-96372260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549962950	chr2:96372269-96372270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568380879	chr2:96372270-96372271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569782635	chr2:96372304-96372305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529059927	chr2:96372324-96372325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548911683	chr2:96372325-96372326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565628791	chr2:96372358-96372359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149166600	chr2:96372391-96372392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7583558	chr2:96372406-96372407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571430778	chr2:96372416-96372417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554514138	chr2:96372500-96372501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557411634	chr2:96372505-96372506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574181382	chr2:96372514-96372515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536853349	chr2:96372549-96372550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369891921	chr2:96372583-96372584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76415189	chr2:96372586-96372587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191461462	chr2:96372638-96372639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541032987	chr2:96372713-96372714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564033832	chr2:96372735-96372736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183177858	chr2:96372797-96372798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372983900	chr2:96372807-96372808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543178224	chr2:96372856-96372857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572665610	chr2:96372861-96372862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186076764	chr2:96372921-96372922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35763798	chr2:96372941-96372942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529116952	chr2:96372959-96372960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548726438	chr2:96373017-96373018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548829967	chr2:96373018-96373019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540084031	chr2:96373048-96373049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189964667	chr2:96373053-96373054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78835417	chr2:96373065-96373066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576054006	chr2:96373106-96373107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543175951	chr2:96373115-96373116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528342757	chr2:96373205-96373206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96361600-96374600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:96374600-96374800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:96374600-96375000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:96374800-96375800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:96375000-96384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:96375800-96377200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:96377000-96377200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96377200-96379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:96377200-96379000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:96378200-96381600	Enhancers	Fetal Lung	lung
11	chr2:96378600-96379000	Enhancers	Fetal Kidney	kidney
12	chr2:96378600-96380000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:96378800-96379200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:96378800-96379200	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:96378800-96380200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:96378800-96380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:96379000-96380000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:96379000-96380200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:96379200-96379600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:96379200-96380000	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:96379200-96380400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:96379200-96380400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:96379200-96380600	Enhancers	Fetal Intestine Large	intestine
24	chr2:96379200-96380600	Enhancers	Fetal Intestine Small	intestine
25	chr2:96379400-96380000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:96379400-96380000	Enhancers	Fetal Stomach	stomach
27	chr2:96379400-96380200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:96379400-96380200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:96379600-96380000	Enhancers	Small Intestine	intestine
30	chr2:96379600-96380400	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:96379800-96380200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:96380000-96384800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:96381600-96385800	Weak transcription	Fetal Lung	lung
34	chr2:96384600-96386200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:96384800-96385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:96384800-96386000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:96385400-96386000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:96385800-96386000	Enhancers	Fetal Lung	lung
39	chr2:96385800-96386000	Enhancers	Gastric	stomach
40	chr2:96385800-96386000	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:96386000-96386600	Enhancers	Lung	lung
42	chr2:96386200-96387400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:96387800-96388000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:96391000-96391800	Enhancers	NHDF-Ad	bronchial
45	chr2:96391800-96394400	Weak transcription	NHDF-Ad	bronchial
46	chr2:96392800-96395200	Enhancers	Liver	Liver
47	chr2:96394400-96394600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:96394400-96394800	Enhancers	Fetal Stomach	stomach
49	chr2:96394400-96394800	Enhancers	HSMM	muscle
50	chr2:96394600-96394800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links