Variant report

Variant	nsv820407
Chromosome Location	chr2:96591462-96623415
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	ATF1	chr2:96595249-96595443	K562	blood:	n/a	n/a
2	ATF1	chr2:96603306-96603505	K562	blood:	n/a	n/a
3	BCL11A	chr2:96594562-96594761	GM12878	blood:	n/a	n/a
4	CTCF	chr2:96615120-96615270	SK-N-SH_RA	brain:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
5	CTCF	chr2:96615112-96615270	Hela-S3	cervix:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
6	CTCF	chr2:96615100-96615250	HPAF	blood vessel:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
7	CTCF	chr2:96615160-96615310	RPTEC	kidney:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
8	CTCF	chr2:96615136-96615268	ProgFib	skin:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
9	CTCF	chr2:96615120-96615270	NHLF	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
10	CTCF	chr2:96615120-96615270	HA-sp	spinal cord:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
11	CTCF	chr2:96615180-96615330	AG04449	skin:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
12	CTCF	chr2:96615106-96615239	HUVEC	blood vessel:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
13	CTCF	chr2:96615120-96615270	HAc	cerebellar:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
14	CTCF	chr2:96615080-96615230	HCPEpiC	choroid plexus:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
15	CTCF	chr2:96615120-96615270	HMEC	breast:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
16	CTCF	chr2:96615110-96615247	MCF-7	breast:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
17	CTCF	chr2:96607320-96607470	HCM	heart:	n/a	n/a
18	CTCF	chr2:96617640-96617790	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:96615100-96615250	AG09309	skin:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
20	CTCF	chr2:96615160-96615310	HMF	breast:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
21	CTCF	chr2:96615096-96615311	Gliobla	brain:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
22	CTCF	chr2:96615120-96615270	WI-38	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
23	CTCF	chr2:96616080-96616230	AG10803	skin:	n/a	n/a
24	CTCF	chr2:96615097-96615263	Medullo	brain:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
25	CTCF	chr2:96615011-96615328	A549	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
26	CTCF	chr2:96615100-96615250	AG09319	gingival:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
27	CTCF	chr2:96615100-96615250	HUVEC	blood vessel:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
28	CTCF	chr2:96615159-96615262	A549	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
29	CTCF	chr2:96615157-96615284	Lung_OC	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
30	CTCF	chr2:96615100-96615250	HBMEC	blood vessel:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
31	CTCF	chr2:96603420-96603570	RPTEC	kidney:	n/a	n/a
32	CTCF	chr2:96615146-96615228	Fibrobl	skin:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
33	CTCF	chr2:96615100-96615250	HA-sp	spinal cord:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
34	CTCF	chr2:96615140-96615290	MCF-7	breast:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
35	CTCF	chr2:96615100-96615250	AoAF	blood vessel:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
36	CTCF	chr2:96615100-96615250	HPF	lung:	n/a	chr2:96615185-96615203 chr2:96615187-96615200
37	CTCF	chr2:96600280-96600430	K562	blood:	n/a	n/a
38	CUX1	chr2:96596713-96596882	GM12878	blood:	n/a	n/a
39	EP300	chr2:96597685-96597982	GM12878	blood:	n/a	n/a
40	EP300	chr2:96607637-96607917	GM12878	blood:	n/a	n/a
41	FOS	chr2:96613769-96613959	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:96613754-96613968	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:96592228-96592459	HUVEC	blood vessel:	n/a	chr2:96592326-96592337
44	FOS	chr2:96594035-96594217	MCF10A-Er-Src	breast:	n/a	chr2:96594165-96594176
45	FOS	chr2:96594023-96594286	HUVEC	blood vessel:	n/a	chr2:96594165-96594176
46	FOSL2	chr2:96597535-96597991	HepG2	liver:	n/a	chr2:96597853-96597864
47	FOSL2	chr2:96597550-96597821	HepG2	liver:	n/a	n/a
48	FOXA1	chr2:96604655-96604958	HepG2	liver:	n/a	n/a
49	FOXA1	chr2:96621334-96621638	HepG2	liver:	n/a	n/a
50	FOXA1	chr2:96607370-96607777	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-1	chr2:96610862-96610922	XLOC_002209
2	lnc-GPAT2-1	chr2:96622534-96622564	XLOC_002209
3	lnc-GPAT2-4	chr2:96602559-96604956	NONHSAT072522
4	lnc-GPAT2-1	chr2:96614278-96614344	XLOC_002209
5	lnc-GPAT2-1	chr2:96616497-96616527	XLOC_002209
6	lnc-GPAT2-1	chr2:96617096-96617156	XLOC_002209
7	lnc-GPAT2-1	chr2:96619687-96619753	XLOC_002209

Variant related genes	Relation type
ANKRD36C	TF binding region
B4GALT1	miRNA target sites
BACE1	miRNA target sites

Extended variants
information (count: 2190 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567513058	chr2:96591477-96591478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574056215	chr2:96591522-96591523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542896286	chr2:96591570-96591571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559885748	chr2:96591581-96591582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528633257	chr2:96591628-96591629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182043054	chr2:96591685-96591686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139582239	chr2:96591705-96591706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532800366	chr2:96591725-96591726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185925717	chr2:96591779-96591780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372322523	chr2:96591780-96591781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528974065	chr2:96591827-96591828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547610382	chr2:96591840-96591841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191584255	chr2:96591925-96591926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565871400	chr2:96591949-96591950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534782775	chr2:96591959-96591960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141260959	chr2:96591960-96591961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539423390	chr2:96591976-96591977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537470022	chr2:96592006-96592007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557319099	chr2:96592054-96592055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574088647	chr2:96592062-96592063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186401570	chr2:96592089-96592090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553142209	chr2:96592119-96592120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376304142	chr2:96592155-96592156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545183501	chr2:96592175-96592176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191556688	chr2:96592220-96592221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143341357	chr2:96592290-96592291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543092454	chr2:96592294-96592295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563306376	chr2:96592344-96592345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528837409	chr2:96592430-96592431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537391279	chr2:96592492-96592493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555541047	chr2:96592508-96592509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549084057	chr2:96592562-96592563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559149483	chr2:96592563-96592564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528327609	chr2:96592637-96592638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551579094	chr2:96592658-96592659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571612935	chr2:96592662-96592663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537332205	chr2:96592664-96592665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550557662	chr2:96592671-96592672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573927249	chr2:96592708-96592709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373263284	chr2:96592721-96592722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536221241	chr2:96592733-96592734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553469985	chr2:96592741-96592742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182127102	chr2:96592743-96592744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538894154	chr2:96592779-96592780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558717782	chr2:96592802-96592803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140371180	chr2:96592837-96592838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544892948	chr2:96592839-96592840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541625788	chr2:96592847-96592848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552763870	chr2:96592870-96592871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201832470	chr2:96592881-96592882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
4	chr2:96543800-96596200	Weak transcription	K562	blood
5	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
7	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
9	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:96574600-96627600	Weak transcription	HSMM	muscle
14	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:96575800-96595600	Strong transcription	Dnd41	blood
17	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
20	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:96577600-96600200	Weak transcription	A549	lung
25	chr2:96577800-96593200	Weak transcription	NHEK	skin
26	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
29	chr2:96577800-96603400	Weak transcription	Osteobl	bone
30	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
31	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:96578000-96645000	Weak transcription	NH-A	brain
34	chr2:96579000-96596600	Weak transcription	GM12878-XiMat	blood
35	chr2:96580000-96594400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:96580200-96594400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:96580600-96592000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:96580600-96595600	Weak transcription	Fetal Brain Female	brain
39	chr2:96580800-96593200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:96581400-96617000	Weak transcription	Pancreas	Pancrea
41	chr2:96582000-96601800	Weak transcription	Small Intestine	intestine
42	chr2:96582000-96605800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:96582600-96596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:96582800-96595400	Weak transcription	Primary B cells from cord blood	blood
45	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:96583800-96595200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:96584000-96624600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:96584400-96621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:96585000-96601600	Weak transcription	Gastric	stomach
50	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain

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