Variant report

Variant	esv3453470
Chromosome Location	chr1:209935214-209936154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD11B1-3	chr1:209935860-209935941	NONHSAT009232

Extended variants
information (count: 44 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533778328	chr1:209935222-209935223	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs11400539	chr1:209935223-209935224	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs111641234	chr1:209935231-209935232	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs71636133	chr1:209935234-209935235	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs529333357	chr1:209935248-209935249	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs562398586	chr1:209935276-209935277	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs61820582	chr1:209935282-209935283	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs142276391	chr1:209935338-209935339	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs549097989	chr1:209935363-209935364	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs529807027	chr1:209935408-209935409	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145087421	chr1:209935409-209935410	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146852712	chr1:209935416-209935417	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527960442	chr1:209935451-209935452	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200676074	chr1:209935489-209935490	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386638977	chr1:209935490-209935491	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6679631	chr1:209935491-209935492	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140703005	chr1:209935495-209935496	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111578129	chr1:209935537-209935538	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568420391	chr1:209935549-209935550	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535959375	chr1:209935579-209935580	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554776326	chr1:209935595-209935596	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573108870	chr1:209935614-209935615	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534071515	chr1:209935628-209935629	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182658007	chr1:209935642-209935643	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187332084	chr1:209935695-209935696	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78995984	chr1:209935710-209935711	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191955175	chr1:209935735-209935736	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574423346	chr1:209935736-209935737	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10489342	chr1:209935778-209935779	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs560295467	chr1:209935785-209935786	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374883348	chr1:209935791-209935792	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371450634	chr1:209935831-209935832	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377270819	chr1:209935848-209935849	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs627755	chr1:209935916-209935917	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs552446215	chr1:209935925-209935926	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs148515427	chr1:209935964-209935965	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532039513	chr1:209936005-209936006	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2076152	chr1:209936060-209936061	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs113990173	chr1:209936064-209936065	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149537102	chr1:209936074-209936075	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184562171	chr1:209936127-209936128	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547951975	chr1:209936135-209936136	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373719712	chr1:209936139-209936140	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566670342	chr1:209936145-209936146	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
3	chr1:209930800-209938800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209931000-209941800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:209931000-209942000	Weak transcription	Esophagus	oesophagus
6	chr1:209931000-209943200	Weak transcription	Lung	lung
7	chr1:209931000-209943600	Weak transcription	Gastric	stomach
8	chr1:209931800-209935400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
9	chr1:209931800-209935800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr1:209931800-209940600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:209932000-209936800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:209932200-209935400	Genic enhancers	Fetal Thymus	thymus
13	chr1:209932200-209941200	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:209932200-209941400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:209932200-209941800	Weak transcription	Colonic Mucosa	Colon
16	chr1:209932200-209942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:209932600-209935400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:209932600-209936000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:209932600-209937800	Strong transcription	Dnd41	blood
20	chr1:209932600-209940000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:209932800-209938000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:209932800-209939400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:209933000-209937800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:209933000-209940000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:209933000-209940800	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr1:209933200-209936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:209933200-209939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:209933200-209939400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:209933400-209935600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:209933400-209939400	Strong transcription	Thymus	Thymus
31	chr1:209933400-209940600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:209933600-209937800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:209933600-209940800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:209933800-209935400	Weak transcription	Spleen	Spleen
35	chr1:209933800-209938000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:209933800-209939200	Weak transcription	Fetal Intestine Small	intestine
37	chr1:209933800-209941600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:209934000-209941600	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:209934400-209937800	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr1:209934600-209941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:209934800-209937800	Strong transcription	GM12878-XiMat	blood
42	chr1:209934800-209939200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:209934800-209940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:209934800-209941800	Weak transcription	Right Ventricle	heart
45	chr1:209934800-209942000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:209934800-209942000	Weak transcription	Right Atrium	heart
47	chr1:209935000-209940600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:209935200-209937800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:209935200-209938200	Strong transcription	Primary B cells from cord blood	blood
50	chr1:209935200-209940600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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