Variant report

Variant	nsv482777
Chromosome Location	chr16:35124884-35279329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1704)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1704 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:35249303-35249340	K562	blood:	n/a	n/a
2	ARID3A	chr16:35215806-35216177	HepG2	liver:	n/a	n/a
3	ATF1	chr16:35239677-35239877	K562	blood:	n/a	n/a
4	ATF1	chr16:35261366-35261566	K562	blood:	n/a	n/a
5	ATF1	chr16:35277983-35278202	K562	blood:	n/a	n/a
6	ATF1	chr16:35215804-35216177	K562	blood:	n/a	n/a
7	ATF1	chr16:35213351-35213381	K562	blood:	n/a	n/a
8	ATF1	chr16:35268916-35268944	K562	blood:	n/a	n/a
9	ATF1	chr16:35267539-35267911	K562	blood:	n/a	n/a
10	ATF1	chr16:35259671-35260040	K562	blood:	n/a	n/a
11	ATF1	chr16:35264269-35264515	K562	blood:	n/a	n/a
12	ATF3	chr16:35215892-35216057	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr16:35219381-35219757	K562	blood:	n/a	n/a
14	BACH1	chr16:35256899-35257275	K562	blood:	n/a	n/a
15	BACH1	chr16:35266044-35266101	K562	blood:	n/a	n/a
16	BACH1	chr16:35238579-35238779	K562	blood:	n/a	n/a
17	BATF	chr16:35243651-35243855	GM12878	blood:	n/a	n/a
18	BATF	chr16:35227031-35227310	GM12878	blood:	n/a	n/a
19	BATF	chr16:35221097-35221282	GM12878	blood:	n/a	n/a
20	BATF	chr16:35246110-35246376	GM12878	blood:	n/a	n/a
21	BATF	chr16:35254458-35254653	GM12878	blood:	n/a	n/a
22	BATF	chr16:35207170-35207358	GM12878	blood:	n/a	n/a
23	BATF	chr16:35261256-35261444	GM12878	blood:	n/a	n/a
24	BATF	chr16:35254421-35254625	GM12878	blood:	n/a	n/a
25	BATF	chr16:35247305-35247505	GM12878	blood:	n/a	n/a
26	BATF	chr16:35250886-35251152	GM12878	blood:	n/a	n/a
27	BATF	chr16:35250156-35250514	GM12878	blood:	n/a	n/a
28	BATF	chr16:35254746-35254977	GM12878	blood:	n/a	n/a
29	BATF	chr16:35255667-35255988	GM12878	blood:	n/a	n/a
30	BATF	chr16:35274637-35275010	GM12878	blood:	n/a	n/a
31	BATF	chr16:35245768-35245957	GM12878	blood:	n/a	n/a
32	BATF	chr16:35253541-35253745	GM12878	blood:	n/a	n/a
33	BATF	chr16:35245827-35246072	GM12878	blood:	n/a	n/a
34	BATF	chr16:35239497-35239873	GM12878	blood:	n/a	n/a
35	BATF	chr16:35246081-35246465	GM12878	blood:	n/a	n/a
36	BATF	chr16:35215892-35216137	GM12878	blood:	n/a	n/a
37	BATF	chr16:35244568-35244723	GM12878	blood:	n/a	n/a
38	BATF	chr16:35252081-35252281	GM12878	blood:	n/a	n/a
39	BATF	chr16:35250603-35250848	GM12878	blood:	n/a	n/a
40	BATF	chr16:35255675-35256007	GM12878	blood:	n/a	n/a
41	BATF	chr16:35231834-35232116	GM12878	blood:	n/a	n/a
42	BATF	chr16:35237013-35237332	GM12878	blood:	n/a	n/a
43	BATF	chr16:35244531-35244748	GM12878	blood:	n/a	n/a
44	BATF	chr16:35233825-35234355	GM12878	blood:	n/a	n/a
45	BATF	chr16:35239471-35239746	GM12878	blood:	n/a	n/a
46	BATF	chr16:35250857-35251241	GM12878	blood:	n/a	n/a
47	BATF	chr16:35250134-35250425	GM12878	blood:	n/a	n/a
48	BATF	chr16:35215869-35216143	GM12878	blood:	n/a	n/a
49	BATF	chr16:35245358-35245563	GM12878	blood:	n/a	n/a
50	BATF	chr16:35258989-35259459	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:35133889..35136586-chr16:35136893..35138863,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-36	chr16:35146491-35146887	NONHSAT142249

No data

Variant related genes	Relation type
ENSG00000221580	TF binding region
PPP1R1AP2	TF binding region
ENSG00000221580	chromatin interactions

Extended variants
information (count: 10473 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:10473 , 50 per page) page: 1 2 3 4 5 6 7 ... 210

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556307233	chr16:35125403-35125404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538542131	chr16:35125404-35125405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574856465	chr16:35125409-35125410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554063839	chr16:35125452-35125453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375584556	chr16:35125458-35125459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375438863	chr16:35125463-35125464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541957321	chr16:35125472-35125473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559908862	chr16:35125476-35125477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117170049	chr16:35125512-35125513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1383830	chr16:35125526-35125527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180687417	chr16:35125527-35125528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530568121	chr16:35125528-35125529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564363352	chr16:35125542-35125543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572144408	chr16:35125577-35125578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542455192	chr16:35125580-35125581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560756532	chr16:35125599-35125600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575683561	chr16:35125625-35125626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543134380	chr16:35125636-35125637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564691692	chr16:35125666-35125667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370183217	chr16:35125694-35125695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149004663	chr16:35125796-35125797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561557081	chr16:35125803-35125804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186654285	chr16:35125826-35125827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143844110	chr16:35125841-35125842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191044654	chr16:35125847-35125848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148127976	chr16:35125852-35125853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373341037	chr16:35125854-35125855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55855405	chr16:35125875-35125876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538186607	chr16:35125898-35125899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556507138	chr16:35125901-35125902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568406521	chr16:35125909-35125910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560039675	chr16:35125926-35125927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535553152	chr16:35125976-35125977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377579925	chr16:35126002-35126003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530429024	chr16:35126041-35126042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114002148	chr16:35126075-35126076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548755642	chr16:35126083-35126084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572214150	chr16:35126106-35126107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113204811	chr16:35126128-35126129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182091751	chr16:35126135-35126136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377540008	chr16:35126146-35126147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373382230	chr16:35126183-35126184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576263431	chr16:35126215-35126216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537511633	chr16:35126216-35126217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551847982	chr16:35126221-35126222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543384749	chr16:35126222-35126223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142968208	chr16:35126242-35126243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186080292	chr16:35126288-35126289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552674866	chr16:35126295-35126296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146083006	chr16:35126311-35126312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medulloblastoma	21163964	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35125400-35132400	Weak transcription	Stomach Mucosa	stomach
2	chr16:35128400-35128600	Enhancers	Duodenum Mucosa	Duodenum
3	chr16:35128400-35128800	Enhancers	Gastric	stomach
4	chr16:35128400-35129000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:35132400-35132600	Enhancers	Stomach Mucosa	stomach
6	chr16:35132600-35132800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr16:35138000-35138400	Active TSS	Fetal Heart	heart
8	chr16:35139800-35148400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:35144400-35144600	Enhancers	Dnd41	blood
10	chr16:35144600-35145000	Flanking Active TSS	Dnd41	blood
11	chr16:35145000-35145800	ZNF genes & repeats	Dnd41	blood
12	chr16:35161600-35162200	ZNF genes & repeats	Dnd41	blood
13	chr16:35164600-35171800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:35167600-35170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr16:35175400-35176200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:35194200-35194600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:35197000-35197200	Enhancers	Hela-S3	cervix
18	chr16:35197000-35197200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr16:35197000-35197200	ZNF genes & repeats	NH-A	brain
20	chr16:35197200-35201400	Weak transcription	NH-A	brain
21	chr16:35200800-35208600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:35201200-35213200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:35201400-35201600	ZNF genes & repeats	NH-A	brain
24	chr16:35201600-35205800	Weak transcription	NH-A	brain
25	chr16:35203600-35205800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr16:35205600-35208600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr16:35205600-35209200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:35205800-35206000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:35205800-35206000	ZNF genes & repeats	Small Intestine	intestine
31	chr16:35205800-35206200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr16:35205800-35206200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr16:35205800-35206200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:35205800-35206200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr16:35205800-35206200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:35205800-35206200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
37	chr16:35205800-35206200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:35205800-35206200	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr16:35205800-35206200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr16:35205800-35206200	ZNF genes & repeats	Fetal Lung	lung
41	chr16:35205800-35206200	ZNF genes & repeats	HUVEC	blood vessel
42	chr16:35205800-35206200	ZNF genes & repeats	NH-A	brain
43	chr16:35205800-35206400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr16:35205800-35212200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr16:35206000-35206200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:35206000-35206200	ZNF genes & repeats	HepG2	liver
47	chr16:35206200-35215800	Weak transcription	NH-A	brain
48	chr16:35207400-35208400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr16:35208600-35210800	ZNF genes & repeats	Liver	Liver
50	chr16:35210400-35210600	ZNF genes & repeats	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links