Variant report

Variant	nsv961573
Chromosome Location	chr2:234655021-234655848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234655118-234655244	A549	lung:	n/a	n/a
2	POLR2A	chr2:234655122-234655288	A549	lung:	n/a	n/a
3	RFX5	chr2:234655392-234655393	HepG2	liver:	n/a	n/a
4	TEAD4	chr2:234655225-234655511	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234655709-234655759	SK-N-SH	brain:	n/a
2	chr2:234655709-234655759	AG04449	skin:	fetal
3	chr2:234655709-234655759	HNPCEpiC	eye:	n/a
4	chr2:234655709-234655759	HCT-116	colon:	n/a
5	chr2:234655709-234655759	MCF-7	breast:	n/a
6	chr2:234655709-234655759	H1-hESC	embryonic stem cell:	embryo
7	chr2:234655709-234655759	HCM	heart:	n/a
8	chr2:234655709-234655759	Hepatocyte	liver:	n/a
9	chr2:234655709-234655759	AG09309	skin:	n/a
10	chr2:234655709-234655759	HL-60	blood:	n/a
11	chr2:234655709-234655759	AG10803	skin:	n/a
12	chr2:234655709-234655759	GM12892	blood:	n/a
13	chr2:234655709-234655759	RPTEC	kidney:	n/a
14	chr2:234655709-234655759	CMK	blood:	n/a
15	chr2:234655709-234655759	PFSK-1	brain:	n/a
16	chr2:234655709-234655759	LNCaP	prostate:	n/a
17	chr2:234655709-234655759	HRPEpiC	eye:	n/a
18	chr2:234655709-234655759	PANC-1	pancreas:	n/a
19	chr2:234655709-234655759	HCF	heart:	n/a
20	chr2:234655709-234655759	NHBE	bronchial:	n/a
21	chr2:234655709-234655759	K562	blood:	n/a
22	chr2:234655709-234655759	HepG2	liver:	n/a
23	chr2:234655709-234655759	A549	lung:	n/a
24	chr2:234655709-234655759	ECC-1	luminal epithelium:	n/a
25	chr2:234655709-234655759	AG09319	gingival:	n/a
26	chr2:234655709-234655759	SK-N-SH_RA	brain:	n/a
27	chr2:234655709-234655759	HCPEpiC	choroid plexus:	n/a
28	chr2:234655709-234655759	T-47D	breast:	n/a
29	chr2:234655709-234655759	SAEC	small airway:	n/a
30	chr2:234655709-234655759	Jurkat	blood:	n/a
31	chr2:234655709-234655759	AoSMC	blood vessel:	n/a
32	chr2:234655709-234655759	HMEC	breast:	n/a
33	chr2:234655709-234655759	HAEpiC	amniotic membrane:	n/a
34	chr2:234655709-234655759	Hela-S3	cervix:	n/a
35	chr2:234655709-234655759	SKMC	muscle:	n/a
36	chr2:234655709-234655759	HEK293	kidney:	embryo
37	chr2:234655709-234655759	NB4	blood:	n/a
38	chr2:234655709-234655759	BE2_C	brain:	n/a
39	chr2:234655709-234655759	SK-N-MC	brain:	n/a
40	chr2:234655709-234655759	HEEpiC	esophagus:	n/a
41	chr2:234655709-234655759	NT2-D1	testis:	n/a
42	chr2:234655709-234655759	IMR90	lung:	fetal
43	chr2:234655709-234655759	ProgFib	skin:	n/a
44	chr2:234655709-234655759	PrEC	prostate:	n/a
45	chr2:234655709-234655759	ovcar-3	ovarian:	n/a
46	chr2:234655709-234655759	HUVEC	blood vessel:	n/a
47	chr2:234655709-234655759	HRCEpiC	kidney:	n/a
48	chr2:234655709-234655759	MCF10A-Er-Src	breast:	n/a
49	chr2:234655709-234655759	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:234655709-234655759	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
2	chr2:234650134..234652973-chr2:234653062..234655371,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A2P	TF binding region
ENSG00000248705	TF binding region
DNAJB3	TF binding region
UGT1A2P	CpG island
ENSG00000248705	CpG island
DNAJB3	CpG island
ENSG00000242515	chromatin interactions
ENSG00000234143	chromatin interactions
ENSG00000227802	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546503927	chr2:234655067-234655068	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs141272199	chr2:234655076-234655077	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs538596800	chr2:234655117-234655118	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371846977	chr2:234655139-234655140	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs536618082	chr2:234655141-234655142	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs4663968	chr2:234655144-234655145	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575149330	chr2:234655184-234655185	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs567530423	chr2:234655200-234655201	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs537470722	chr2:234655216-234655217	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs553124614	chr2:234655286-234655287	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs375179260	chr2:234655293-234655294	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs4663333	chr2:234655303-234655304	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4663969	chr2:234655313-234655314	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192486679	chr2:234655333-234655334	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs575730371	chr2:234655334-234655335	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs544593514	chr2:234655516-234655517	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561454270	chr2:234655526-234655527	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185798867	chr2:234655582-234655583	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35269037	chr2:234655612-234655613	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs118160610	chr2:234655622-234655623	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560743202	chr2:234655637-234655638	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563411016	chr2:234655652-234655653	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532529523	chr2:234655759-234655760	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs28946888	chr2:234655776-234655777	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35672427	chr2:234655782-234655783	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145059616	chr2:234655805-234655806	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559745186	chr2:234655810-234655811	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189112981	chr2:234655833-234655834	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375624902	chr2:234655844-234655845	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234626600-234668400	Weak transcription	NHEK	skin
3	chr2:234646400-234666600	Weak transcription	Stomach Mucosa	stomach
4	chr2:234649800-234658800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:234652800-234658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234652800-234659200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234653200-234655600	Enhancers	Fetal Intestine Small	intestine
8	chr2:234654200-234655400	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:234654200-234655400	Enhancers	Fetal Intestine Large	intestine
10	chr2:234654400-234656000	Flanking Active TSS	Liver	Liver
11	chr2:234654600-234655800	Bivalent Enhancer	HepG2	liver
12	chr2:234655000-234655200	Flanking Active TSS	A549	lung
13	chr2:234655000-234655600	Enhancers	Gastric	stomach
14	chr2:234655200-234655400	Enhancers	A549	lung
15	chr2:234655400-234655600	Flanking Active TSS	A549	lung
16	chr2:234655400-234656200	Enhancers	Pancreas	Pancrea
17	chr2:234655600-234656200	Enhancers	A549	lung

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