Variant report

Variant	nsv887642
Chromosome Location	chr7:12973609-13067198
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:64)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:13002292..13005736-chr7:13007182..13009562,4	K562	blood:
2	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
3	chr7:12990977..12995089-chr7:12996583..12998919,4	MCF-7	breast:
4	chr7:12755272..12756942-chr7:13055576..13058177,2	K562	blood:
5	chr7:12755040..12757208-chr7:13001272..13003633,2	K562	blood:
6	chr7:12730191..12732568-chr7:13002089..13004922,3	K562	blood:
7	chr7:12990977..12995089-chr7:12996583..12998919,4	MCF-7	breast:
8	chr7:12988128..12991573-chr7:12991577..12994524,4	K562	blood:
9	chr7:12989951..12991980-chr7:12999639..13002112,2	K562	blood:
10	chr7:12779448..12781606-chr7:13032500..13035028,2	K562	blood:
11	chr7:12952382..12954094-chr7:12985590..12988388,2	K562	blood:
12	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:
13	chr7:12985845..12987465-chr7:12989105..12990628,2	MCF-7	breast:
14	chr7:13053595..13056376-chr7:13057496..13060584,3	K562	blood:
15	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
16	chr7:12996184..12998633-chr7:12999943..13002751,2	K562	blood:
17	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
18	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
19	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
20	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
21	chr7:12998941..13001719-chr7:13004251..13006120,2	MCF-7	breast:
22	chr7:13056069..13058196-chr7:13060337..13062403,2	MCF-7	breast:
23	chr7:12982252..12985209-chr7:12989086..12991470,2	MCF-7	breast:
24	chr7:12989172..12991049-chr7:13002352..13005089,2	K562	blood:
25	chr7:12988128..12991573-chr7:12991577..12994524,4	K562	blood:
26	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
27	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
28	chr7:13056069..13058196-chr7:13060337..13062403,2	MCF-7	breast:
29	chr7:12996184..12998633-chr7:12999943..13002751,2	K562	blood:
30	chr7:12982597..12985238-chr7:12986749..12990745,4	K562	blood:
31	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
32	chr7:12726106..12728466-chr7:13017401..13019789,2	MCF-7	breast:
33	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
34	chr7:13007791..13010494-chr7:13016088..13018337,2	K562	blood:
35	chr7:13002443..13004669-chr7:13013594..13016442,2	K562	blood:
36	chr7:12725409..12728650-chr7:13000069..13003173,3	K562	blood:
37	chr7:13002292..13005736-chr7:13007182..13009562,4	K562	blood:
38	chr7:13061821..13064035-chr7:13076250..13077788,2	MCF-7	breast:
39	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
40	chr7:12907138..12909951-chr7:12999390..13002085,2	K562	blood:
41	chr7:13053595..13056376-chr7:13057496..13060584,3	K562	blood:
42	chr7:13002443..13004669-chr7:13013594..13016442,2	K562	blood:
43	chr7:13044871..13047028-chr7:13047401..13048917,2	K562	blood:
44	chr7:12982252..12985209-chr7:12989086..12991470,2	MCF-7	breast:
45	chr7:12724668..12727132-chr7:13005066..13007173,2	MCF-7	breast:
46	chr7:12753447..12755088-chr7:13019924..13021549,2	K562	blood:
47	chr7:13056096..13059019-chr7:13091108..13093835,2	K562	blood:
48	chr7:13007791..13010494-chr7:13016088..13018337,2	K562	blood:
49	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
50	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-6	chr7:13006732-13006797	NONHSAT119246
2	lnc-ARL4A-6	chr7:13006471-13006612	NONHSAT119246

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000230879	chromatin interactions

Extended variants
information (count: 4042 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4042 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34061	chr7:12973609-12973610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35544800	chr7:12973617-12973618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34060	chr7:12973653-12973654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34188942	chr7:12973708-12973709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554971032	chr7:12973737-12973738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34059	chr7:12973791-12973792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34058	chr7:12973822-12973823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554079376	chr7:12973826-12973827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34057	chr7:12973854-12973855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182033194	chr7:12973959-12973960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578180723	chr7:12973965-12973966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368930799	chr7:12974033-12974034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187088682	chr7:12974072-12974073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534502839	chr7:12974086-12974087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541439134	chr7:12974095-12974096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79014151	chr7:12974118-12974119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34056	chr7:12974125-12974126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540768826	chr7:12974130-12974131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546660325	chr7:12974173-12974174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191576321	chr7:12974211-12974212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147845796	chr7:12974223-12974224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566603984	chr7:12974237-12974238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182826208	chr7:12974258-12974259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569952799	chr7:12974316-12974317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529176209	chr7:12974335-12974336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61411402	chr7:12974341-12974342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552277677	chr7:12974368-12974369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368144120	chr7:12974385-12974386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55956378	chr7:12974399-12974400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547914909	chr7:12974410-12974411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12111863	chr7:12974414-12974415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540058076	chr7:12974427-12974428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368291127	chr7:12974441-12974442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140407583	chr7:12974454-12974455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555250581	chr7:12974459-12974460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371913051	chr7:12974504-12974505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555631344	chr7:12974521-12974522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571755721	chr7:12974522-12974523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540603753	chr7:12974536-12974537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564242499	chr7:12974537-12974538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185551318	chr7:12974560-12974561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543626200	chr7:12974592-12974593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35513595	chr7:12974612-12974613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370688064	chr7:12974613-12974614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72566360	chr7:12974617-12974618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4027504	chr7:12974618-12974619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76563412	chr7:12974619-12974620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376769617	chr7:12974727-12974728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370093125	chr7:12974816-12974817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150395085	chr7:12974842-12974843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12969800-12982000	Weak transcription	A549	lung
2	chr7:12979000-12979800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr7:12979200-12980000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:12979400-12979800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:12979600-12979800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr7:12979600-12980000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr7:12979800-12982200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:12979800-12991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:12980200-12980800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:12980200-12981000	Enhancers	HepG2	liver
11	chr7:12980400-12981000	Enhancers	Liver	Liver
12	chr7:12980400-12983800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:12980600-12980800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:12980600-12984000	Enhancers	NHEK	skin
15	chr7:12980800-12982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:12980800-12983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:12981000-12981400	Active TSS	HepG2	liver
18	chr7:12981000-12981800	Flanking Active TSS	Liver	Liver
19	chr7:12981200-12981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:12981200-12981400	Active TSS	HMEC	breast
21	chr7:12981200-12981600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:12981200-12982800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:12981400-12981600	Flanking Active TSS	HepG2	liver
24	chr7:12981400-12981600	Flanking Active TSS	HMEC	breast
25	chr7:12981400-12981800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:12981400-12983600	Enhancers	Fetal Intestine Large	intestine
27	chr7:12981400-12983800	Enhancers	Fetal Intestine Small	intestine
28	chr7:12981600-12981800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:12981600-12981800	Active TSS	HepG2	liver
30	chr7:12981600-12983800	Enhancers	HMEC	breast
31	chr7:12981800-12982200	Enhancers	Liver	Liver
32	chr7:12981800-12982200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:12981800-12982800	Enhancers	Stomach Mucosa	stomach
34	chr7:12981800-12982800	Flanking Active TSS	HepG2	liver
35	chr7:12981800-12983000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:12981800-12991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:12982000-12982200	Flanking Active TSS	A549	lung
38	chr7:12982000-12982400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:12982000-12982600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:12982000-12982600	Enhancers	Colon Smooth Muscle	Colon
41	chr7:12982000-12982600	Enhancers	Fetal Kidney	kidney
42	chr7:12982000-12982600	Enhancers	Fetal Lung	lung
43	chr7:12982000-12982600	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:12982000-12982600	Enhancers	Osteobl	bone
45	chr7:12982200-12982400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:12982200-12982400	Flanking Active TSS	Liver	Liver
47	chr7:12982200-12982400	Enhancers	A549	lung
48	chr7:12982200-12982600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:12982200-12982600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:12982200-12982800	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links