Variant report

Variant	nsv1018400
Chromosome Location	chr7:13196288-13308474
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:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
2	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
3	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
4	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
5	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
6	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
7	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
8	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
9	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
10	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
11	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
12	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
13	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
14	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
15	chr7:12726758..12728673-chr7:13301799..13304378,2	MCF-7	breast:
16	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
17	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
18	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
19	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
20	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
21	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:
22	chr7:12722970..12725427-chr7:13301212..13303550,2	MCF-7	breast:
23	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
24	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
25	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
26	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
27	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
28	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
29	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
30	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
31	chr7:12680874..12682903-chr7:13306421..13309219,2	K562	blood:
32	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
33	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
34	chr7:13306388..13306972-chr7:14730968..14731509,2	K562	blood:
35	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
36	chr7:12724872..12725730-chr7:13302371..13302915,2	MCF-7	breast:
37	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
38	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
39	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
40	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
41	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
42	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
43	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
44	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
45	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
46	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
47	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
48	chr7:12726495..12727305-chr7:13302682..13303235,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248
2	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 3281 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3281 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528706712	chr7:13196405-13196406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527378134	chr7:13196414-13196415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150172124	chr7:13196434-13196435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145176198	chr7:13196446-13196447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548926540	chr7:13196453-13196454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540891293	chr7:13196457-13196458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560148205	chr7:13196481-13196482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532347480	chr7:13196618-13196619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545938346	chr7:13196622-13196623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562989747	chr7:13196629-13196630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531671885	chr7:13196672-13196673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117656637	chr7:13196721-13196722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568534329	chr7:13196751-13196752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112371878	chr7:13196765-13196766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6955229	chr7:13196786-13196787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184186064	chr7:13196804-13196805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570491376	chr7:13196805-13196806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137875161	chr7:13196816-13196817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533010249	chr7:13196817-13196818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539166533	chr7:13196872-13196873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556337038	chr7:13196880-13196881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569743175	chr7:13196933-13196934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535158942	chr7:13196975-13196976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555550634	chr7:13197045-13197046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375032904	chr7:13197046-13197047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540682481	chr7:13197047-13197048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557624696	chr7:13197086-13197087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576865924	chr7:13197135-13197136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545802926	chr7:13197168-13197169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560750259	chr7:13197187-13197188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562691390	chr7:13197191-13197192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77906200	chr7:13197209-13197210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555691102	chr7:13197249-13197250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562342035	chr7:13197281-13197282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17645476	chr7:13197326-13197327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548157241	chr7:13197370-13197371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536276145	chr7:13197422-13197423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188589366	chr7:13197426-13197427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78895013	chr7:13197475-13197476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13244656	chr7:13197494-13197495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533628405	chr7:13197515-13197516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13244667	chr7:13197524-13197525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13232023	chr7:13197529-13197530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13232028	chr7:13197539-13197540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13244912	chr7:13197555-13197556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549756608	chr7:13197575-13197576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569525571	chr7:13197577-13197578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181067845	chr7:13197593-13197594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535360499	chr7:13197605-13197606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369649527	chr7:13197622-13197623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13193600-13199000	Weak transcription	Fetal Kidney	kidney
2	chr7:13198400-13199000	Enhancers	Brain Germinal Matrix	brain
3	chr7:13198800-13199400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:13198800-13199600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:13199000-13199400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:13199000-13199600	Enhancers	Fetal Kidney	kidney
7	chr7:13199400-13201000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13201000-13201200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:13204800-13205600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:13205200-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:13205400-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:13205400-13206200	Enhancers	Fetal Lung	lung
13	chr7:13207400-13209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:13214000-13214800	Enhancers	Fetal Intestine Small	intestine
15	chr7:13214200-13214800	Enhancers	Fetal Intestine Large	intestine
16	chr7:13214200-13215000	Enhancers	HepG2	liver
17	chr7:13214200-13215400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:13214400-13214600	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:13214600-13214800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:13214600-13215600	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:13214800-13215200	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:13214800-13215200	Weak transcription	Fetal Intestine Large	intestine
23	chr7:13214800-13215400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:13215000-13218800	Weak transcription	HepG2	liver
25	chr7:13215200-13215400	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:13215200-13215800	Enhancers	Fetal Intestine Large	intestine
27	chr7:13215200-13216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:13215400-13215600	Enhancers	Fetal Intestine Small	intestine
29	chr7:13215400-13215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:13215400-13215800	Enhancers	K562	blood
31	chr7:13215600-13216200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:13215800-13218800	Weak transcription	K562	blood
33	chr7:13216200-13216400	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:13218600-13221600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:13218800-13219200	Enhancers	K562	blood
36	chr7:13218800-13219800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:13218800-13220000	Enhancers	HepG2	liver
38	chr7:13219200-13220200	Enhancers	Fetal Muscle Leg	muscle
39	chr7:13219400-13220000	Enhancers	Fetal Stomach	stomach
40	chr7:13219600-13220000	Enhancers	Fetal Kidney	kidney
41	chr7:13219600-13220200	Enhancers	Colon Smooth Muscle	Colon
42	chr7:13219600-13220800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:13219600-13221000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:13219800-13220000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:13219800-13220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:13219800-13220200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:13220000-13220200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:13220000-13221000	Weak transcription	Fetal Stomach	stomach
49	chr7:13220000-13221200	Weak transcription	Fetal Kidney	kidney
50	chr7:13220000-13221400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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