Variant report

Variant	nsv947331
Chromosome Location	chr1:168436140-168440596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168434236..168435916-chr1:168440122..168441908,2	K562	blood:
2	chr1:168421286..168421816-chr1:168440181..168440707,2	K562	blood:
3	chr1:168431347..168434389-chr1:168437766..168440799,3	MCF-7	breast:
4	chr1:168430768..168433415-chr1:168437699..168440443,2	K562	blood:
5	chr1:168436511..168438790-chr1:168464783..168466920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237658	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140540653	chr1:168436189-168436190	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547955567	chr1:168436222-168436223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190075362	chr1:168436242-168436243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536907262	chr1:168436248-168436249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116182118	chr1:168436250-168436251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577111969	chr1:168436264-168436265	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534601513	chr1:168436273-168436274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552729020	chr1:168436301-168436302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182662140	chr1:168436336-168436337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564975578	chr1:168436433-168436434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7543621	chr1:168436436-168436437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs138337967	chr1:168436520-168436521	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575917704	chr1:168436537-168436538	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188584041	chr1:168436539-168436540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377290032	chr1:168436643-168436644	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191471032	chr1:168436651-168436652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528819237	chr1:168436699-168436700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540603085	chr1:168436730-168436731	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561769957	chr1:168436733-168436734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529315687	chr1:168436739-168436740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550671329	chr1:168436804-168436805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569466982	chr1:168436849-168436850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183737192	chr1:168436853-168436854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552128392	chr1:168436918-168436919	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570709655	chr1:168436922-168436923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76834781	chr1:168436923-168436924	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12069559	chr1:168436931-168436932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568076854	chr1:168436972-168436973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372723639	chr1:168436997-168436998	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535501168	chr1:168437005-168437006	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188620481	chr1:168437026-168437027	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12564897	chr1:168437030-168437031	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192531568	chr1:168437039-168437040	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149627716	chr1:168437067-168437068	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562037242	chr1:168437079-168437080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144994087	chr1:168437095-168437096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561708565	chr1:168437129-168437130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11582430	chr1:168437177-168437178	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544247664	chr1:168437219-168437220	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562633414	chr1:168437292-168437293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533298148	chr1:168437294-168437295	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527929565	chr1:168437356-168437357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572498241	chr1:168437362-168437363	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552326239	chr1:168437474-168437475	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115011014	chr1:168437535-168437536	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528353452	chr1:168437539-168437540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546585376	chr1:168437552-168437553	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74754980	chr1:168437602-168437603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535438225	chr1:168437639-168437640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557034387	chr1:168437652-168437653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168433800-168443400	Weak transcription	Liver	Liver
2	chr1:168434000-168437000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:168434400-168443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:168434600-168436600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:168434800-168439200	Enhancers	Dnd41	blood
6	chr1:168434800-168440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:168435000-168436400	Enhancers	HepG2	liver
8	chr1:168435000-168436600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:168435000-168436800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:168435000-168436800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:168435000-168436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:168435000-168437000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:168435000-168437600	Enhancers	Fetal Intestine Small	intestine
14	chr1:168435000-168437800	Enhancers	Fetal Kidney	kidney
15	chr1:168435000-168438400	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:168435000-168438400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:168435000-168439600	Enhancers	HSMMtube	muscle
18	chr1:168435000-168440400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:168435000-168440600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:168435000-168440600	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:168435200-168436200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:168435200-168436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:168435200-168436200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:168435200-168436200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:168435200-168436200	Enhancers	Aorta	Aorta
26	chr1:168435200-168436200	Enhancers	Brain Germinal Matrix	brain
27	chr1:168435200-168436200	Enhancers	Fetal Lung	lung
28	chr1:168435200-168436200	Enhancers	Placenta	Placenta
29	chr1:168435200-168436200	Enhancers	Fetal Thymus	thymus
30	chr1:168435200-168436200	Enhancers	Spleen	Spleen
31	chr1:168435200-168436200	Enhancers	NH-A	brain
32	chr1:168435200-168436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:168435200-168436400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:168435200-168436400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:168435200-168436400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:168435200-168436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:168435200-168436400	Enhancers	Fetal Stomach	stomach
38	chr1:168435200-168436400	Enhancers	Psoas Muscle	Psoas
39	chr1:168435200-168436400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:168435200-168436400	Enhancers	K562	blood
41	chr1:168435200-168436600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:168435200-168436600	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:168435200-168436600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:168435200-168436600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:168435200-168436600	Enhancers	A549	lung
46	chr1:168435200-168437000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:168435200-168437400	Enhancers	Fetal Intestine Large	intestine
48	chr1:168435200-168437800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:168435200-168437800	Enhancers	Colonic Mucosa	Colon
50	chr1:168435200-168437800	Enhancers	Rectal Mucosa Donor 29	rectum

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