Variant report

Variant	nsv9795
Chromosome Location	chr20:25832369-25851689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:663)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25848512-25848702	K562	blood:	n/a	n/a
2	ATF3	chr20:25843689-25844092	HepG2	liver:	n/a	n/a
3	BACH1	chr20:25848341-25848706	K562	blood:	n/a	n/a
4	BCL11A	chr20:25846720-25846953	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:25846694-25846979	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:25843000-25843149	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
8	BHLHE40	chr20:25834600-25834731	K562	blood:	n/a	n/a
9	BHLHE40	chr20:25840427-25840668	K562	blood:	n/a	n/a
10	BHLHE40	chr20:25844497-25844502	K562	blood:	n/a	n/a
11	BHLHE40	chr20:25848340-25848714	K562	blood:	n/a	n/a
12	BHLHE40	chr20:25838692-25838875	K562	blood:	n/a	n/a
13	BRCA1	chr20:25848499-25848704	HepG2	liver:	n/a	n/a
14	BRCA1	chr20:25834562-25834610	HepG2	liver:	n/a	n/a
15	BRCA1	chr20:25848519-25848534	GM12878	blood:	n/a	n/a
16	CBX3	chr20:25843839-25844188	K562	blood:	n/a	n/a
17	CBX3	chr20:25834554-25834916	K562	blood:	n/a	n/a
18	CCNT2	chr20:25843881-25844128	K562	blood:	n/a	n/a
19	CEBPB	chr20:25849580-25849737	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:25843000-25843241	K562	blood:	n/a	n/a
21	CEBPB	chr20:25848333-25848714	K562	blood:	n/a	n/a
22	CEBPB	chr20:25844508-25844516	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:25841958-25842158	K562	blood:	n/a	n/a
24	CEBPB	chr20:25848498-25848709	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:25843604-25843807	K562	blood:	n/a	n/a
26	CEBPB	chr20:25846248-25846410	HepG2	liver:	n/a	n/a
27	CEBPB	chr20:25838694-25838720	K562	blood:	n/a	n/a
28	CEBPB	chr20:25844039-25844135	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:25843063-25843150	K562	blood:	n/a	n/a
30	CEBPD	chr20:25834502-25834848	HepG2	liver:	n/a	n/a
31	CHD2	chr20:25834423-25834625	HepG2	liver:	n/a	n/a
32	CHD2	chr20:25848346-25848713	K562	blood:	n/a	n/a
33	CHD2	chr20:25834413-25834711	K562	blood:	n/a	n/a
34	CHD2	chr20:25848510-25848542	GM12878	blood:	n/a	n/a
35	CREB1	chr20:25842055-25842489	A549	lung:	n/a	n/a
36	CTBP2	chr20:25840333-25840793	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr20:25843989-25844045	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr20:25843961-25844070	MCF-7	breast:	n/a	n/a
39	CTCF	chr20:25842287-25842443	GM12878	blood:	n/a	n/a
40	CTCF	chr20:25843984-25844086	K562	blood:	n/a	n/a
41	CTCF	chr20:25842177-25842551	K562	blood:	n/a	n/a
42	CTCF	chr20:25842270-25842396	GM19239	blood:	n/a	n/a
43	CTCF	chr20:25842289-25842469	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr20:25842001-25842685	A549	lung:	n/a	n/a
45	CTCF	chr20:25843920-25844075	NHEK	skin:	n/a	n/a
46	CTCF	chr20:25842306-25842433	NHEK	skin:	n/a	n/a
47	CTCF	chr20:25843740-25844273	K562	blood:	n/a	n/a
48	CTCF	chr20:25843901-25844083	A549	lung:	n/a	n/a
49	CTCF	chr20:25843965-25844060	HepG2	liver:	n/a	n/a
50	CTCF	chr20:25844002-25844032	ProgFib	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25848969-25849019	SK-N-SH	brain:	n/a
2	chr20:25848886-25848936	NT2-D1	testis:	n/a
3	chr20:25848886-25848936	HMEC	breast:	n/a
4	chr20:25846519-25846569	Hepatocyte	liver:	n/a
5	chr20:25848969-25849019	GM06990	blood:	n/a
6	chr20:25846519-25846569	HEEpiC	esophagus:	n/a
7	chr20:25848969-25849019	MCF-7	breast:	n/a
8	chr20:25848886-25848936	T-47D	breast:	n/a
9	chr20:25848969-25849019	PrEC	prostate:	n/a
10	chr20:25846519-25846569	GM12892	blood:	n/a
11	chr20:25834845-25834895	HMEC	breast:	n/a
12	chr20:25848886-25848936	SK-N-MC	brain:	n/a
13	chr20:25846519-25846569	SK-N-MC	brain:	n/a
14	chr20:25848969-25849019	HCM	heart:	n/a
15	chr20:25846519-25846569	AG10803	skin:	n/a
16	chr20:25846519-25846569	HepG2	liver:	n/a
17	chr20:25848969-25849019	HCPEpiC	choroid plexus:	n/a
18	chr20:25848969-25849019	HRCEpiC	kidney:	n/a
19	chr20:25834845-25834895	HEK293	kidney:	embryo
20	chr20:25848969-25849019	U87	brain:	n/a
21	chr20:25848886-25848936	HUVEC	blood vessel:	n/a
22	chr20:25848969-25849019	HCT-116	colon:	n/a
23	chr20:25848969-25849019	ovcar-3	ovarian:	n/a
24	chr20:25848969-25849019	NB4	blood:	n/a
25	chr20:25848886-25848936	AoSMC	blood vessel:	n/a
26	chr20:25846519-25846569	HIPEpiC	eye:	n/a
27	chr20:25848969-25849019	MCF10A-Er-Src	breast:	n/a
28	chr20:25848969-25849019	T-47D	breast:	n/a
29	chr20:25846519-25846569	BJ	skin:	n/a
30	chr20:25834845-25834895	GM12878	blood:	n/a
31	chr20:25848886-25848936	SAEC	small airway:	n/a
32	chr20:25848886-25848936	H1-hESC	embryonic stem cell:	embryo
33	chr20:25846519-25846569	PANC-1	pancreas:	n/a
34	chr20:25848886-25848936	ProgFib	skin:	n/a
35	chr20:25846519-25846569	AoSMC	blood vessel:	n/a
36	chr20:25848886-25848936	HPAEpiC	pulmonary alveolar:	n/a
37	chr20:25846519-25846569	HRCEpiC	kidney:	n/a
38	chr20:25846519-25846569	HUVEC	blood vessel:	n/a
39	chr20:25846519-25846569	NHBE	bronchial:	n/a
40	chr20:25848886-25848936	HRCEpiC	kidney:	n/a
41	chr20:25848886-25848936	HIPEpiC	eye:	n/a
42	chr20:25846519-25846569	GM12891	blood:	n/a
43	chr20:25834845-25834895	GM19239	blood:	n/a
44	chr20:25834845-25834895	AG09309	skin:	n/a
45	chr20:25848886-25848936	LNCaP	prostate:	n/a
46	chr20:25848969-25849019	RPTEC	kidney:	n/a
47	chr20:25848969-25849019	Hepatocyte	liver:	n/a
48	chr20:25846519-25846569	SK-N-SH	brain:	n/a
49	chr20:25846519-25846569	HCPEpiC	choroid plexus:	n/a
50	chr20:25834845-25834895	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25604447..25606097-chr20:25837225..25840203,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM182B	TF binding region
FAM182B	CpG island
ENSG00000213742	chromatin interactions
ENSG00000170191	chromatin interactions

Extended variants
information (count: 1666 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1666 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76027448	chr20:25832389-25832390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs149842246	chr20:25832420-25832421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564636818	chr20:25832421-25832422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73348925	chr20:25832433-25832434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35939156	chr20:25832447-25832448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398035549	chr20:25832448-25832449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73348930	chr20:25832468-25832469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79005963	chr20:25832481-25832482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575254411	chr20:25832482-25832483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543982242	chr20:25832508-25832509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374243013	chr20:25832517-25832518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113185743	chr20:25832525-25832526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189102828	chr20:25832545-25832546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6050930	chr20:25832577-25832578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs6083962	chr20:25832579-25832580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376900939	chr20:25832582-25832583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371411946	chr20:25832590-25832591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374677094	chr20:25832593-25832594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6083963	chr20:25832617-25832618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193290575	chr20:25832630-25832631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11696651	chr20:25832653-25832654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs368967515	chr20:25832675-25832676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373267801	chr20:25832682-25832683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367798572	chr20:25832714-25832715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6050931	chr20:25832731-25832732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185532636	chr20:25832734-25832735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143987133	chr20:25832735-25832736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76471680	chr20:25832764-25832765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75651188	chr20:25832774-25832775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75511673	chr20:25832775-25832776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550820209	chr20:25832784-25832785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567436238	chr20:25832792-25832793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536094001	chr20:25832811-25832812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79370552	chr20:25832815-25832816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201524431	chr20:25832816-25832817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552840814	chr20:25832825-25832826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6050932	chr20:25832826-25832827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79091416	chr20:25832832-25832833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538551400	chr20:25832840-25832841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78121940	chr20:25832846-25832847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550951176	chr20:25832851-25832852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558089365	chr20:25832855-25832856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189178742	chr20:25832858-25832859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77471509	chr20:25832868-25832869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75487037	chr20:25832909-25832910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544273560	chr20:25832920-25832921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138681356	chr20:25832928-25832929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574167495	chr20:25833002-25833003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs80188438	chr20:25833034-25833035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543289982	chr20:25833040-25833041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1883 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25826000-25833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr20:25826000-25833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:25826000-25833800	Weak transcription	Aorta	Aorta
4	chr20:25826000-25833800	Weak transcription	HSMMtube	muscle
5	chr20:25826200-25832600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr20:25826200-25833600	Weak transcription	Brain Anterior Caudate	brain
7	chr20:25826200-25833600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:25826200-25833600	Weak transcription	Brain Substantia Nigra	brain
9	chr20:25826200-25833600	Weak transcription	Right Ventricle	heart
10	chr20:25828400-25833600	Weak transcription	Left Ventricle	heart
11	chr20:25829400-25833600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr20:25829400-25833600	Weak transcription	Brain Hippocampus Middle	brain
13	chr20:25829400-25833600	Weak transcription	Colonic Mucosa	Colon
14	chr20:25829400-25833600	Weak transcription	Esophagus	oesophagus
15	chr20:25829400-25833600	Weak transcription	Fetal Lung	lung
16	chr20:25829400-25833600	Weak transcription	Ovary	ovary
17	chr20:25829400-25834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:25829400-25836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:25829600-25833600	Weak transcription	Brain Angular Gyrus	brain
20	chr20:25829600-25833600	Weak transcription	Pancreas	Pancrea
21	chr20:25829600-25833600	Weak transcription	Spleen	Spleen
22	chr20:25829800-25833600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr20:25829800-25833600	Weak transcription	Fetal Muscle Leg	muscle
24	chr20:25829800-25833600	Weak transcription	Lung	lung
25	chr20:25829800-25833600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr20:25830600-25833600	Weak transcription	Fetal Stomach	stomach
27	chr20:25831000-25833400	Weak transcription	HepG2	liver
28	chr20:25831000-25833800	Weak transcription	Gastric	stomach
29	chr20:25831200-25833600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:25831200-25833800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr20:25832000-25832600	Enhancers	Dnd41	blood
32	chr20:25832200-25832400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr20:25832200-25833400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr20:25832600-25833600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:25832600-25834000	Flanking Active TSS	Dnd41	blood
36	chr20:25832800-25834200	Enhancers	Fetal Brain Male	brain
37	chr20:25833200-25835400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr20:25833400-25833600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25833400-25833600	Enhancers	Adipose Nuclei	Adipose
40	chr20:25833400-25833600	Enhancers	Duodenum Mucosa	Duodenum
41	chr20:25833400-25833600	Enhancers	HepG2	liver
42	chr20:25833400-25835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr20:25833400-25835200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr20:25833600-25833800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:25833600-25833800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr20:25833600-25833800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr20:25833600-25833800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:25833600-25833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:25833600-25833800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:25833600-25833800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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