Variant report

Variant	nsv1029455
Chromosome Location	chr7:21215293-21233752
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	chr7:21229520..21231366-chr7:21232704..21235455,2	K562	blood:
2	chr7:21229520..21231366-chr7:21232704..21235455,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP4-5	chr7:21224748-21224854	NONHSAT119440

Extended variants
information (count: 876 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538695538	chr7:21215322-21215323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558724065	chr7:21215357-21215358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572264187	chr7:21215364-21215365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76574836	chr7:21215366-21215367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550953556	chr7:21215392-21215393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554766982	chr7:21215393-21215394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574619014	chr7:21215435-21215436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78057817	chr7:21215466-21215467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563303454	chr7:21215484-21215485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562014885	chr7:21215533-21215534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576867655	chr7:21215536-21215537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529312479	chr7:21215539-21215540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114746072	chr7:21215563-21215564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559447592	chr7:21215564-21215565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35171415	chr7:21215637-21215638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528668505	chr7:21215655-21215656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544883264	chr7:21215656-21215657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192017367	chr7:21215664-21215665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55733205	chr7:21215665-21215666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531063164	chr7:21215697-21215698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7803836	chr7:21215706-21215707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182630093	chr7:21215748-21215749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148384641	chr7:21215757-21215758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187007780	chr7:21215794-21215795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116347083	chr7:21215802-21215803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534739584	chr7:21215829-21215830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539772093	chr7:21215834-21215835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554422864	chr7:21215869-21215870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574585769	chr7:21215891-21215892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536939246	chr7:21215896-21215897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141568639	chr7:21215918-21215919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79617693	chr7:21215950-21215951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545826377	chr7:21215982-21215983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552965608	chr7:21215986-21215987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150474162	chr7:21215987-21215988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542312257	chr7:21216018-21216019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562099749	chr7:21216026-21216027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138284643	chr7:21216068-21216069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377563298	chr7:21216073-21216074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192793756	chr7:21216118-21216119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184138004	chr7:21216154-21216155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541663505	chr7:21216175-21216176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533685465	chr7:21216185-21216186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552177065	chr7:21216186-21216187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553784704	chr7:21216209-21216210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576885709	chr7:21216249-21216250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534198970	chr7:21216258-21216259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190727035	chr7:21216311-21216312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528135196	chr7:21216358-21216359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548308358	chr7:21216378-21216379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21215000-21215600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:21215000-21215800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:21215000-21216200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:21215200-21215600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:21215200-21215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:21215200-21216000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:21215200-21223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:21215400-21215600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:21215400-21216200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:21215600-21215800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:21215600-21222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:21215800-21216000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:21215800-21222600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:21222200-21222600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:21222400-21222600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:21222600-21222800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr7:21222600-21223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:21222600-21223800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:21222800-21224200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:21223400-21225000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:21223600-21225400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:21223800-21224800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:21223800-21224800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:21224000-21224600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:21224000-21224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:21224000-21226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:21224200-21226000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:21224200-21226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:21224400-21225800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:21224400-21226200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:21224600-21224800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:21224600-21224800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:21224600-21224800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:21224600-21224800	Enhancers	Brain Substantia Nigra	brain
35	chr7:21224600-21225400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:21224600-21225800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:21224800-21225400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:21224800-21225400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:21224800-21225800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:21224800-21226200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:21224800-21233200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:21225000-21225400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:21225000-21225400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:21225000-21225400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:21225000-21225400	Active TSS	Brain Anterior Caudate	brain
46	chr7:21225000-21225400	Active TSS	Brain Germinal Matrix	brain
47	chr7:21225200-21225400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:21225400-21225600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:21225400-21225800	Enhancers	Brain Germinal Matrix	brain
50	chr7:21225400-21226400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links