Variant report

Variant	nsv947366
Chromosome Location	chr1:197157398-197163669
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	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:
2	chr1:197159273..197161304-chr1:197164955..197167252,3	K562	blood:
3	chr1:197158202..197161289-chr1:197163593..197166561,4	MCF-7	breast:
4	chr1:197148315..197153030-chr1:197158427..197161690,6	K562	blood:
5	chr1:197149643..197151239-chr1:197155881..197158669,2	K562	blood:
6	chr1:197157362..197159719-chr1:197168800..197171686,3	K562	blood:
7	chr1:197153871..197156046-chr1:197157510..197159147,2	K562	blood:
8	chr1:197161517..197163826-chr1:197164890..197167674,2	K562	blood:
9	chr1:197160099..197163590-chr1:197167883..197170766,5	MCF-7	breast:
10	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:
11	chr1:197154600..197157025-chr1:197162185..197164324,3	K562	blood:
12	chr1:197108980..197111975-chr1:197160260..197161833,2	K562	blood:
13	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
14	chr1:197118116..197120208-chr1:197163140..197165149,2	MCF-7	breast:
15	chr1:197158202..197161289-chr1:197163593..197166561,4	MCF-7	breast:
16	chr1:197114016..197115684-chr1:197163598..197165339,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177888	chromatin interactions
ENSG00000134376	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370749848	chr1:197157425-197157426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565561881	chr1:197157438-197157439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146939360	chr1:197157461-197157462	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547918085	chr1:197157507-197157508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79868290	chr1:197157573-197157574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373191396	chr1:197157619-197157620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537098890	chr1:197157624-197157625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76887412	chr1:197157632-197157633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34724759	chr1:197157709-197157710	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184884909	chr1:197157787-197157788	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201732366	chr1:197157803-197157804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535338688	chr1:197157812-197157813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570032627	chr1:197157863-197157864	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1415212	chr1:197157894-197157895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559108427	chr1:197157920-197157921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1415213	chr1:197157994-197157995	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138530898	chr1:197158038-197158039	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536041411	chr1:197158052-197158053	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149648061	chr1:197158055-197158056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575645651	chr1:197158063-197158064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189781463	chr1:197158064-197158065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570915096	chr1:197158099-197158100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs36115754	chr1:197158106-197158107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143026991	chr1:197158127-197158128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181034782	chr1:197158139-197158140	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1415215	chr1:197158149-197158150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148204992	chr1:197158185-197158186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs36100776	chr1:197158199-197158200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183760820	chr1:197158211-197158212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559209486	chr1:197158213-197158214	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551806639	chr1:197158307-197158308	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188091271	chr1:197158357-197158358	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563441173	chr1:197158377-197158378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141183474	chr1:197158400-197158401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552200823	chr1:197158402-197158403	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12087358	chr1:197158422-197158423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146215106	chr1:197158427-197158428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139266912	chr1:197158450-197158451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552788640	chr1:197158459-197158460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142540247	chr1:197158460-197158461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536102701	chr1:197158534-197158535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546903866	chr1:197158560-197158561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571474837	chr1:197158563-197158564	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557282236	chr1:197158564-197158565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574401389	chr1:197158578-197158579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10922178	chr1:197158599-197158600	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539572929	chr1:197158651-197158652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74547675	chr1:197158655-197158656	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs75502530	chr1:197158656-197158657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558198487	chr1:197158704-197158705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
3	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
5	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
6	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
13	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
14	chr1:197144400-197158200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:197147600-197161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:197148400-197160800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:197148400-197161200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:197148600-197159600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:197148800-197161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:197149800-197165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:197151200-197160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:197152000-197157600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr1:197152000-197161000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:197152400-197161000	Strong transcription	Dnd41	blood
25	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
26	chr1:197152600-197158400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:197152800-197161600	Strong transcription	HSMM	muscle
28	chr1:197153200-197165000	Weak transcription	Fetal Heart	heart
29	chr1:197153400-197161000	Strong transcription	Primary B cells from cord blood	blood
30	chr1:197153400-197161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:197154000-197157600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:197154000-197157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:197154000-197160200	Strong transcription	Osteobl	bone
34	chr1:197154200-197157800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:197154200-197158000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr1:197154200-197159600	Strong transcription	Primary T cells from cord blood	blood
37	chr1:197154200-197159600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:197154200-197160800	Strong transcription	Fetal Lung	lung
39	chr1:197154200-197161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:197154200-197161000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:197154200-197161000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:197154200-197161000	Strong transcription	Liver	Liver
43	chr1:197154200-197161000	Strong transcription	Placenta	Placenta
44	chr1:197154200-197161400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:197154400-197157400	Strong transcription	Brain Angular Gyrus	brain
46	chr1:197154400-197157600	Strong transcription	HUVEC	blood vessel
47	chr1:197154400-197157600	Strong transcription	K562	blood
48	chr1:197154400-197158200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:197154400-197159200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:197154400-197159600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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