Variant report

Variant	nsv981786
Chromosome Location	chr7:12968068-12991292
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12952382..12954094-chr7:12985590..12988388,2	K562	blood:
2	chr7:12982597..12985238-chr7:12986749..12990745,4	K562	blood:
3	chr7:12982597..12985238-chr7:12986749..12990745,4	K562	blood:
4	chr7:12956747..12959826-chr7:12966112..12968954,4	K562	blood:
5	chr7:12989951..12991980-chr7:12999639..13002112,2	K562	blood:
6	chr7:12725676..12727718-chr7:12981615..12985353,4	MCF-7	breast:
7	chr7:12961395..12963715-chr7:12983088..12984785,2	K562	blood:
8	chr7:12989172..12991049-chr7:13002352..13005089,2	K562	blood:
9	chr7:12985845..12987465-chr7:12989105..12990628,2	MCF-7	breast:
10	chr7:12965459..12967674-chr7:12968950..12971042,2	K562	blood:
11	chr7:12725420..12727462-chr7:12966302..12969517,3	MCF-7	breast:
12	chr7:12990977..12995089-chr7:12996583..12998919,4	MCF-7	breast:
13	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
14	chr7:12985845..12987465-chr7:12989105..12990628,2	MCF-7	breast:
15	chr7:12982252..12985209-chr7:12989086..12991470,2	MCF-7	breast:
16	chr7:12982252..12985209-chr7:12989086..12991470,2	MCF-7	breast:
17	chr7:12988128..12991573-chr7:12991577..12994524,4	K562	blood:
18	chr7:12970290..12973079-chr7:13097205..13098974,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000230879	chromatin interactions

Extended variants
information (count: 1083 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533037488	chr7:12968106-12968107	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555778343	chr7:12968116-12968117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183667331	chr7:12968199-12968200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549657507	chr7:12968201-12968202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186732887	chr7:12968219-12968220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78940435	chr7:12968225-12968226	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140167391	chr7:12968230-12968231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577390427	chr7:12968280-12968281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546454018	chr7:12968376-12968377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375108078	chr7:12968381-12968382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563061953	chr7:12968393-12968394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576683768	chr7:12968404-12968405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542459822	chr7:12968413-12968414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561535299	chr7:12968419-12968420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527334981	chr7:12968454-12968455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540605512	chr7:12968462-12968463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143910575	chr7:12968510-12968511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532832392	chr7:12968525-12968526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192613134	chr7:12968526-12968527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115701893	chr7:12968560-12968561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549270546	chr7:12968570-12968571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529184883	chr7:12968571-12968572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549300983	chr7:12968572-12968573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565975722	chr7:12968584-12968585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534211686	chr7:12968613-12968614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184911170	chr7:12968614-12968615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570973406	chr7:12968635-12968636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539891664	chr7:12968736-12968737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556481789	chr7:12968802-12968803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191232180	chr7:12968814-12968815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542046815	chr7:12968887-12968888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556055039	chr7:12968913-12968914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189239507	chr7:12968915-12968916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62448213	chr7:12968938-12968939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34074	chr7:12968955-12968956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181638355	chr7:12969042-12969043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114883389	chr7:12969117-12969118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184775699	chr7:12969167-12969168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563230121	chr7:12969284-12969285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577805007	chr7:12969352-12969353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189725076	chr7:12969371-12969372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34073	chr7:12969403-12969404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573273898	chr7:12969413-12969414	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10260732	chr7:12969462-12969463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557186355	chr7:12969574-12969575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180904813	chr7:12969615-12969616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377297543	chr7:12969626-12969627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574286507	chr7:12969645-12969646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116906555	chr7:12969659-12969660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547834354	chr7:12969665-12969666	Enhancers 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:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12962000-12970200	Weak transcription	HUVEC	blood vessel
2	chr7:12964400-12969200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:12965200-12968200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:12965400-12968400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:12966200-12969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:12966400-12969200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:12966600-12969200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:12967000-12969600	Enhancers	Stomach Mucosa	stomach
9	chr7:12967200-12968200	Enhancers	Ovary	ovary
10	chr7:12967200-12968200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:12967200-12968400	Enhancers	K562	blood
12	chr7:12967200-12969800	Enhancers	Fetal Intestine Small	intestine
13	chr7:12967400-12970200	Enhancers	Fetal Intestine Large	intestine
14	chr7:12967600-12968800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:12967800-12969400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:12968000-12968200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:12968000-12968600	Enhancers	Pancreas	Pancrea
18	chr7:12968000-12968600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:12968200-12968400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:12968200-12969400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:12968200-12969800	Enhancers	A549	lung
22	chr7:12968400-12968600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:12968400-12968800	Weak transcription	K562	blood
24	chr7:12968800-12969000	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:12968800-12969600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:12968800-12970600	Enhancers	K562	blood
27	chr7:12969000-12969400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:12969200-12969800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:12969200-12969800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:12969200-12969800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:12969200-12969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:12969400-12969800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:12969400-12969800	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:12969600-12969800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:12969800-12982000	Weak transcription	A549	lung
36	chr7:12970200-12970600	Enhancers	HUVEC	blood vessel
37	chr7:12971200-12971800	Active TSS	Placenta	Placenta
38	chr7:12979000-12979800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr7:12979200-12980000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr7:12979400-12979800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:12979600-12979800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr7:12979600-12980000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr7:12979800-12982200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:12979800-12991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:12980200-12980800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr7:12980200-12981000	Enhancers	HepG2	liver
47	chr7:12980400-12981000	Enhancers	Liver	Liver
48	chr7:12980400-12983800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:12980600-12980800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:12980600-12984000	Enhancers	NHEK	skin

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