Variant report

Variant	nsv1012243
Chromosome Location	chr1:217157000-217206765
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217165379..217166249-chr5:170520563..170521270,2	MCF-7	breast:
2	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:
3	chr1:217153129..217154880-chr1:217155625..217158488,2	MCF-7	breast:
4	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
5	chr1:217200941..217201873-chr6:54053550..54054293,2	MCF-7	breast:
6	chr1:217167662..217170376-chr1:217171384..217173746,2	MCF-7	breast:
7	chr1:217177180..217179846-chr1:217183468..217185812,2	K562	blood:
8	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:
9	chr1:217167481..217170396-chr1:217191288..217193517,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA17-8	chr1:217164726-217164825	l_185_chr1:217158808-217164825_testes
2	lnc-SPATA17-8	chr1:217164426-217164723	l_185_chr1:217158808-217164825_testes
3	lnc-GPATCH2-6	chr1:217159100-217159159	NONHSAT009492
4	lnc-SPATA17-8	chr1:217158809-217159572	l_185_chr1:217158808-217164825_testes

No data

Extended variants
information (count: 2042 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2042 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186513351	chr1:217157015-217157016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143579770	chr1:217157016-217157017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139367770	chr1:217157029-217157030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574245612	chr1:217157052-217157053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61123265	chr1:217157058-217157059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58914365	chr1:217157060-217157061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34140634	chr1:217157062-217157063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112365540	chr1:217157111-217157112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577973760	chr1:217157125-217157126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148003836	chr1:217157142-217157143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398074643	chr1:217157147-217157148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71303009	chr1:217157148-217157149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543500477	chr1:217157170-217157171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191410858	chr1:217157181-217157182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182688696	chr1:217157221-217157222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576293447	chr1:217157272-217157273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541596541	chr1:217157276-217157277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561561325	chr1:217157280-217157281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368173297	chr1:217157331-217157332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540729808	chr1:217157360-217157361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146016826	chr1:217157390-217157391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370143427	chr1:217157395-217157396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564070879	chr1:217157398-217157399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532929922	chr1:217157402-217157403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143958888	chr1:217157403-217157404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570310981	chr1:217157412-217157413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529542842	chr1:217157415-217157416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549566291	chr1:217157432-217157433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34328052	chr1:217157458-217157459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1416536	chr1:217157517-217157518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376485806	chr1:217157536-217157537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538175473	chr1:217157583-217157584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535073369	chr1:217157656-217157657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558280958	chr1:217157666-217157667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12025193	chr1:217157707-217157708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12743080	chr1:217157713-217157714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs17044730	chr1:217157748-217157749	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74376882	chr1:217157794-217157795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564354923	chr1:217157808-217157809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35689753	chr1:217157828-217157829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148636386	chr1:217157841-217157842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555095959	chr1:217157846-217157847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35280023	chr1:217157875-217157876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573839365	chr1:217157912-217157913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111670209	chr1:217157920-217157921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75667019	chr1:217157970-217157971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557172958	chr1:217157978-217157979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542833358	chr1:217158033-217158034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562716435	chr1:217158059-217158060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1890556	chr1:217158081-217158082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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	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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217156600-217158200	Enhancers	Psoas Muscle	Psoas
2	chr1:217156800-217157800	Enhancers	Fetal Heart	heart
3	chr1:217157200-217157400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:217157200-217157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:217157200-217158000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:217157200-217158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:217157200-217158200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:217157200-217158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:217157400-217158000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:217157600-217158000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:217157600-217158000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:217157600-217158000	Enhancers	Brain Anterior Caudate	brain
14	chr1:217157600-217158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:217157600-217158200	Enhancers	Brain Substantia Nigra	brain
16	chr1:217157600-217158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:217157800-217158200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:217157800-217158200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:217158000-217158200	Enhancers	Right Atrium	heart
20	chr1:217159200-217159800	Enhancers	HSMMtube	muscle
21	chr1:217161000-217161200	Enhancers	Pancreas	Pancrea
22	chr1:217161200-217170600	Weak transcription	Pancreas	Pancrea
23	chr1:217168600-217168800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:217168600-217168800	Enhancers	Aorta	Aorta
25	chr1:217169000-217170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:217170400-217171000	Enhancers	Brain Germinal Matrix	brain
27	chr1:217170600-217170800	Enhancers	Pancreas	Pancrea
28	chr1:217170600-217170800	Enhancers	Psoas Muscle	Psoas
29	chr1:217170600-217171400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:217170600-217171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:217170600-217171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:217170600-217172000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:217170600-217172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:217170800-217171000	Weak transcription	Pancreas	Pancrea
35	chr1:217170800-217171800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:217170800-217173600	Weak transcription	Left Ventricle	heart
37	chr1:217171000-217171400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:217171000-217172000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:217171400-217171600	Enhancers	Fetal Heart	heart
40	chr1:217173600-217174200	Enhancers	Left Ventricle	heart
41	chr1:217173600-217187600	Weak transcription	Fetal Heart	heart
42	chr1:217174200-217175200	Weak transcription	Left Ventricle	heart
43	chr1:217174600-217175200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:217176000-217176200	Enhancers	Left Ventricle	heart
45	chr1:217176000-217176200	Enhancers	Pancreas	Pancrea
46	chr1:217177800-217178800	Enhancers	Fetal Intestine Large	intestine
47	chr1:217178200-217179000	Enhancers	Fetal Intestine Small	intestine
48	chr1:217178800-217180000	Weak transcription	Fetal Intestine Large	intestine
49	chr1:217179000-217180400	Weak transcription	Fetal Intestine Small	intestine
50	chr1:217180000-217180800	Enhancers	Fetal Intestine Large	intestine

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