Variant report

Variant	nsv979062
Chromosome Location	chr2:96199535-96212061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:96205376-96206066	GM12878	blood:	n/a	n/a
2	ATF2	chr2:96205483-96205981	GM12878	blood:	n/a	n/a
3	BATF	chr2:96205451-96205899	GM12878	blood:	n/a	n/a
4	BATF	chr2:96205472-96206099	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:96205565-96205819	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:96205442-96205930	GM12878	blood:	n/a	n/a
7	BCL3	chr2:96210250-96211061	GM12878	blood:	n/a	n/a
8	BCLAF1	chr2:96205437-96206099	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:96205504-96205892	GM12878	blood:	n/a	n/a
10	CHD2	chr2:96205660-96205896	GM12878	blood:	n/a	n/a
11	CTCF	chr2:96209903-96209950	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr2:96203686-96203784	Kidney_OC	kidney:	n/a	n/a
13	CUX1	chr2:96205586-96205858	GM12878	blood:	n/a	n/a
14	EBF1	chr2:96205684-96205715	GM12878	blood:	n/a	n/a
15	ELK1	chr2:96205543-96205710	GM12878	blood:	n/a	n/a
16	EP300	chr2:96205211-96205902	GM12878	blood:	n/a	n/a
17	EP300	chr2:96205515-96205863	GM12878	blood:	n/a	n/a
18	EP300	chr2:96205512-96205882	GM12878	blood:	n/a	n/a
19	FOXM1	chr2:96205370-96206014	GM12878	blood:	n/a	n/a
20	FOXM1	chr2:96205384-96206091	GM12878	blood:	n/a	n/a
21	IKZF1	chr2:96205481-96206132	GM12878	blood:	n/a	n/a
22	IRF4	chr2:96205436-96206053	GM12878	blood:	n/a	n/a
23	IRF4	chr2:96205429-96205964	GM12878	blood:	n/a	n/a
24	JUND	chr2:96205450-96206174	GM12878	blood:	n/a	n/a
25	JUND	chr2:96205509-96205880	GM12878	blood:	n/a	n/a
26	MAX	chr2:96205658-96205856	GM12878	blood:	n/a	n/a
27	MAX	chr2:96206091-96206098	GM12878	blood:	n/a	n/a
28	MAZ	chr2:96205387-96205876	GM12878	blood:	n/a	n/a
29	MEF2A	chr2:96205339-96205955	GM12878	blood:	n/a	n/a
30	MEF2A	chr2:96205384-96205966	GM12878	blood:	n/a	n/a
31	MEF2C	chr2:96205386-96205910	GM12878	blood:	n/a	n/a
32	MTA3	chr2:96205338-96205945	GM12878	blood:	n/a	n/a
33	MTA3	chr2:96205359-96206046	GM12878	blood:	n/a	n/a
34	MXI1	chr2:96205538-96205869	GM12878	blood:	n/a	n/a
35	NFATC1	chr2:96210571-96211030	GM12878	blood:	n/a	n/a
36	NFATC1	chr2:96205589-96205967	GM12878	blood:	n/a	n/a
37	NFIC	chr2:96205283-96205992	GM12878	blood:	n/a	n/a
38	NFIC	chr2:96204950-96206156	GM12878	blood:	n/a	n/a
39	PAX5	chr2:96205445-96206076	GM12878	blood:	n/a	n/a
40	PBX3	chr2:96210356-96210503	GM12878	blood:	n/a	n/a
41	PBX3	chr2:96210707-96210953	GM12878	blood:	n/a	n/a
42	PML	chr2:96205426-96205984	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:96202473-96202481	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:96200587-96200588	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:96204930-96205062	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:96205697-96205993	GM12891	blood:	n/a	n/a
47	POLR2A	chr2:96210568-96210642	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:96209175-96209182	MCF-7	breast:	n/a	n/a
49	POLR2A	chr2:96201760-96202184	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:96203597-96203728	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96194268..96196244-chr2:96205734..96207829,2	MCF-7	breast:
2	chr2:96197687..96200374-chr2:96200707..96202651,2	MCF-7	breast:
3	chr2:96197171..96199687-chr2:96228199..96230029,2	MCF-7	breast:
4	chr2:96193783..96195942-chr2:96197752..96200330,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-8	chr2:96208478-96208978	NONHSAT072498
2	lnc-AC009237.1-2	chr2:96203717-96204217	ENSG00000273305.1

No data

Variant related genes	Relation type
ENSG00000236431	TF binding region
ENSG00000273305	TF binding region
OR7E102P	TF binding region
ENSG00000233037	TF binding region
ENSG00000236431	chromatin interactions
ENSG00000229689	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538387799	chr2:96199700-96199701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376632997	chr2:96199727-96199728	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs66631547	chr2:96199730-96199731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3931749	chr2:96199738-96199739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1834142	chr2:96199739-96199740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56862168	chr2:96199743-96199744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs60685070	chr2:96199746-96199747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553601535	chr2:96199761-96199762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs68065621	chr2:96199762-96199763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574190804	chr2:96199763-96199764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141399034	chr2:96199771-96199772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs70964872	chr2:96199781-96199782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35192975	chr2:96199788-96199789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370466756	chr2:96199803-96199804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377077380	chr2:96199891-96199892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs180948469	chr2:96199901-96199902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530584246	chr2:96199921-96199922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186198770	chr2:96200029-96200030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190956221	chr2:96200088-96200089	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13031190	chr2:96200124-96200125	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147751302	chr2:96200175-96200176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200999385	chr2:96200184-96200185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531777968	chr2:96200186-96200187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35051795	chr2:96200204-96200205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200141453	chr2:96200213-96200214	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs397871024	chr2:96200214-96200215	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548283216	chr2:96200261-96200262	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568578283	chr2:96200275-96200276	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs72948022	chr2:96200326-96200327	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181373355	chr2:96200335-96200336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186791975	chr2:96200346-96200347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74561578	chr2:96200410-96200411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539744932	chr2:96200436-96200437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144910759	chr2:96200450-96200451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549466357	chr2:96200570-96200571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192042984	chr2:96200586-96200587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1345917	chr2:96200603-96200604	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs574495826	chr2:96200647-96200648	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540295302	chr2:96200658-96200659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs182979052	chr2:96200675-96200676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150942155	chr2:96200783-96200784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72821437	chr2:96200799-96200800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs562813111	chr2:96200810-96200811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74366387	chr2:96200817-96200818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531493181	chr2:96200896-96200897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542238769	chr2:96200902-96200903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77229693	chr2:96200921-96200922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561909480	chr2:96200940-96200941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527802913	chr2:96200991-96200992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188366120	chr2:96201011-96201012	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
2	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:96195800-96201600	Weak transcription	Fetal Lung	lung
4	chr2:96196800-96199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:96197200-96200600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:96197600-96200800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:96197600-96203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:96197600-96203800	Weak transcription	HSMM	muscle
9	chr2:96197800-96199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96197800-96200200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:96197800-96200200	Weak transcription	Fetal Brain Female	brain
12	chr2:96197800-96203600	Weak transcription	Left Ventricle	heart
13	chr2:96197800-96203800	Weak transcription	GM12878-XiMat	blood
14	chr2:96197800-96203800	Weak transcription	NHLF	lung
15	chr2:96197800-96205800	Weak transcription	NHDF-Ad	bronchial
16	chr2:96198000-96199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:96198000-96199600	Weak transcription	Liver	Liver
18	chr2:96198000-96199600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:96198000-96201800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:96198000-96204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:96198000-96204800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:96198000-96204800	Weak transcription	NH-A	brain
23	chr2:96198200-96207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:96198600-96200200	Weak transcription	Fetal Intestine Small	intestine
25	chr2:96198600-96203800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:96203800-96204000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:96203800-96204000	Enhancers	NHLF	lung
28	chr2:96203800-96204800	Enhancers	GM12878-XiMat	blood
29	chr2:96203800-96205600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:96204400-96205000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:96204800-96205200	Enhancers	NH-A	brain
32	chr2:96204800-96205400	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:96204800-96205600	Enhancers	Osteobl	bone
34	chr2:96204800-96205800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:96204800-96205800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:96205400-96205800	Active TSS	GM12878-XiMat	blood
37	chr2:96205800-96206000	Enhancers	NHDF-Ad	bronchial
38	chr2:96205800-96206200	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:96205800-96206400	Flanking Active TSS	GM12878-XiMat	blood

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