Variant report

Variant	nsv606204
Chromosome Location	chr7:11884682-11920546
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	chr7:11869044..11871618-chr7:11911961..11914333,2	K562	blood:

Extended variants
information (count: 698 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6942789	chr7:11884682-11884683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574883705	chr7:11884691-11884692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75439210	chr7:11884726-11884727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147464085	chr7:11884745-11884746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577367361	chr7:11884756-11884757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528578331	chr7:11884821-11884822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545247322	chr7:11884846-11884847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565073000	chr7:11884857-11884858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17165265	chr7:11884865-11884866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544488927	chr7:11884868-11884869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546297474	chr7:11884917-11884918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560759720	chr7:11884919-11884920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149974986	chr7:11884924-11884925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73676212	chr7:11884949-11884950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370380111	chr7:11884979-11884980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566249488	chr7:11884995-11884996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6943249	chr7:11885016-11885017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552531641	chr7:11885054-11885055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569412480	chr7:11885070-11885071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531042995	chr7:11885084-11885085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538203190	chr7:11885129-11885130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35243875	chr7:11885178-11885179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548854817	chr7:11885183-11885184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568732437	chr7:11885222-11885223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113430423	chr7:11885225-11885226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551142531	chr7:11885232-11885233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534188829	chr7:11885256-11885257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12672168	chr7:11885260-11885261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533234382	chr7:11885265-11885266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577446374	chr7:11885273-11885274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539898161	chr7:11885295-11885296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558514455	chr7:11885296-11885297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575383606	chr7:11885326-11885327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544036470	chr7:11885427-11885428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560851705	chr7:11885445-11885446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574361728	chr7:11885454-11885455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184353083	chr7:11885475-11885476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs118188984	chr7:11885477-11885478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532105780	chr7:11885485-11885486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557987456	chr7:11885503-11885504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562981137	chr7:11885580-11885581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189238092	chr7:11885584-11885585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34255731	chr7:11885602-11885603	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73676213	chr7:11885610-11885611	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73676214	chr7:11885635-11885636	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534462142	chr7:11885677-11885678	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193239282	chr7:11885686-11885687	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570855296	chr7:11885706-11885707	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185024039	chr7:11885713-11885714	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375565750	chr7:11885744-11885745	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11881800-11887000	Weak transcription	Right Atrium	heart
2	chr7:11884800-11885600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:11885000-11885800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:11885000-11885800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:11885000-11886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:11885200-11886400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:11885600-11885800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:11885600-11885800	Enhancers	Fetal Lung	lung
9	chr7:11885600-11886000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:11885600-11886200	Enhancers	Fetal Brain Female	brain
11	chr7:11885600-11886400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:11885600-11887400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:11885600-11888200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:11885800-11886000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:11885800-11886000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:11885800-11886000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:11885800-11886200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:11885800-11886400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:11885800-11886400	Enhancers	Adipose Nuclei	Adipose
20	chr7:11885800-11886600	Flanking Active TSS	Fetal Lung	lung
21	chr7:11885800-11886800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:11885800-11887200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:11885800-11888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:11886000-11886200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:11886000-11886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:11886000-11886400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:11886000-11886400	Enhancers	Fetal Stomach	stomach
28	chr7:11886000-11886600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:11886000-11887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:11886000-11887400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:11886000-11887600	Enhancers	Fetal Brain Male	brain
32	chr7:11886000-11890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:11886200-11886400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:11886200-11886400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:11886200-11886600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:11886200-11886600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:11886200-11886600	Weak transcription	Fetal Brain Female	brain
38	chr7:11886400-11886600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:11886400-11887000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:11886400-11887400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:11886400-11889000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:11886400-11889000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:11886400-11890400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:11886600-11886800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:11886600-11887000	Enhancers	Fetal Lung	lung
46	chr7:11886600-11887400	Enhancers	Fetal Brain Female	brain
47	chr7:11886600-11887600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:11886600-11889000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:11886800-11887000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:11887000-11887200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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