Variant report

Variant	nsv8491
Chromosome Location	chr1:161410479-161452256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161448695..161450202-chr1:161456413..161459104,2	K562	blood:
2	chr1:161354632..161358747-chr1:161408665..161411829,3	K562	blood:
3	chr1:161446150..161448285-chr1:161450330..161452840,2	MCF-7	breast:
4	chr1:161448492..161451596-chr1:161455751..161458370,3	K562	blood:
5	chr1:161400311..161402101-chr1:161410173..161412002,2	K562	blood:
6	chr1:161450943..161454043-chr1:161454575..161457732,3	K562	blood:
7	chr1:161446150..161448285-chr1:161450330..161452840,2	MCF-7	breast:
8	chr1:161450285..161452907-chr1:161452973..161454557,2	K562	blood:
9	chr1:161398543..161400305-chr1:161409223..161410860,2	K562	blood:
10	chr1:161395263..161401587-chr1:161405777..161411756,13	K562	blood:
11	chr1:161391094..161394225-chr1:161406445..161410510,3	K562	blood:
12	chr1:161450195..161452340-chr1:161717842..161720012,2	MCF-7	breast:
13	chr1:161172685..161175216-chr1:161409075..161411689,2	K562	blood:
14	chr1:161449421..161451787-chr1:161709912..161712102,2	K562	blood:
15	chr1:161128203..161130042-chr1:161408720..161410734,2	K562	blood:
16	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224985	chromatin interactions
ENSG00000143258	chromatin interactions
ENSG00000081721	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116839680	chr1:161410498-161410499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370504273	chr1:161410504-161410505	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536586196	chr1:161410516-161410517	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs61802764	chr1:161410521-161410522	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545228812	chr1:161410529-161410530	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565340471	chr1:161410532-161410533	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12750511	chr1:161410536-161410537	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373368977	chr1:161410545-161410546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114559320	chr1:161410559-161410560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530318755	chr1:161410590-161410591	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376045416	chr1:161410609-161410610	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546935601	chr1:161410623-161410624	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560414799	chr1:161410631-161410632	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532527258	chr1:161410641-161410642	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552366171	chr1:161410649-161410650	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12731992	chr1:161410654-161410655	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537174903	chr1:161410659-161410660	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559295718	chr1:161410660-161410661	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142451887	chr1:161410675-161410676	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12750846	chr1:161410690-161410691	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536155354	chr1:161410700-161410701	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553259231	chr1:161410703-161410704	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573185516	chr1:161410722-161410723	Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs68132389	chr1:161410736-161410737	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375619958	chr1:161410760-161410761	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368675939	chr1:161410798-161410799	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371557187	chr1:161410801-161410802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556551158	chr1:161410806-161410807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576394224	chr1:161410808-161410809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541924230	chr1:161410809-161410810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562238294	chr1:161410817-161410818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199657393	chr1:161410831-161410832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200753147	chr1:161410841-161410842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558810018	chr1:161410850-161410851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575629025	chr1:161410852-161410853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202065269	chr1:161411214-161411215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199550085	chr1:161411307-161411308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147087788	chr1:161411829-161411830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138544347	chr1:161411991-161411992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559317730	chr1:161412014-161412015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9427375	chr1:161412066-161412067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142602562	chr1:161412173-161412174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367588326	chr1:161412331-161412332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371382304	chr1:161412377-161412378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544732130	chr1:161412457-161412458	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs561122558	chr1:161412552-161412553	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374812949	chr1:161412565-161412566	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201785744	chr1:161412615-161412616	Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs149393283	chr1:161412624-161412625	Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs574727002	chr1:161412631-161412632	Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161409000-161410600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:161409200-161410600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:161409400-161410600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:161409400-161410600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161409400-161410600	Flanking Active TSS	HMEC	breast
6	chr1:161409400-161410600	Active TSS	HSMM	muscle
7	chr1:161409600-161410600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:161409600-161410600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
9	chr1:161409600-161410600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:161409600-161410600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr1:161409600-161410600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:161409600-161410600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr1:161409600-161410600	Active TSS	HSMMtube	muscle
14	chr1:161409600-161410800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:161409600-161410800	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr1:161409800-161410600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:161409800-161410600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:161409800-161410600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:161409800-161410600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:161409800-161410600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:161409800-161410600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:161409800-161410600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr1:161409800-161410600	Active TSS	Brain Angular Gyrus	brain
24	chr1:161409800-161410600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr1:161409800-161410600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr1:161409800-161410600	Active TSS	Brain Substantia Nigra	brain
27	chr1:161409800-161410600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr1:161409800-161410600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:161409800-161410600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr1:161409800-161410600	Flanking Active TSS	Pancreas	Pancrea
31	chr1:161409800-161410600	Bivalent/Poised TSS	Thymus	Thymus
32	chr1:161409800-161410600	Active TSS	A549	lung
33	chr1:161409800-161410600	Active TSS	GM12878-XiMat	blood
34	chr1:161409800-161410600	Active TSS	NHEK	skin
35	chr1:161409800-161410600	Active TSS	NHLF	lung
36	chr1:161409800-161410800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:161409800-161410800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:161409800-161410800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:161409800-161410800	Bivalent/Poised TSS	HepG2	liver
40	chr1:161410000-161410600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:161410000-161410600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:161410000-161410600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:161410000-161410600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr1:161410000-161410600	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:161410000-161410600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:161410000-161410600	Bivalent/Poised TSS	Ovary	ovary
47	chr1:161410000-161410600	Flanking Active TSS	Right Ventricle	heart
48	chr1:161410000-161410600	Active TSS	K562	blood
49	chr1:161410000-161410600	Active TSS	NH-A	brain
50	chr1:161410000-161410600	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links