Variant report

Variant	nsv606234
Chromosome Location	chr7:12777308-12826398
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:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:12796602..12799104-chr7:12801716..12803667,2	K562	blood:
2	chr7:12746516..12748065-chr7:12787286..12789975,2	K562	blood:
3	chr7:12730450..12733246-chr7:12819730..12821436,2	K562	blood:
4	chr7:12774986..12777749-chr7:12783084..12785237,2	K562	blood:
5	chr7:12726182..12729102-chr7:12805599..12808937,3	K562	blood:
6	chr7:12724508..12727621-chr7:12776634..12778464,3	K562	blood:
7	chr7:12766596..12768749-chr7:12802172..12804632,2	K562	blood:
8	chr7:12788056..12789598-chr7:12795283..12797093,2	K562	blood:
9	chr7:12816193..12818807-chr7:12819189..12821870,3	K562	blood:
10	chr7:12733142..12735648-chr7:12788213..12790851,2	MCF-7	breast:
11	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
12	chr7:12763175..12766763-chr7:12787003..12789358,3	K562	blood:
13	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
14	chr7:12800803..12802500-chr7:12804614..12806992,2	K562	blood:
15	chr7:12805050..12807862-chr7:12810613..12813616,3	K562	blood:
16	chr7:12728919..12730458-chr7:12808880..12810657,2	K562	blood:
17	chr7:12768573..12770264-chr7:12785480..12787749,2	K562	blood:
18	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:
19	chr7:12779448..12781606-chr7:13032500..13035028,2	K562	blood:
20	chr7:12795575..12798544-chr7:12800834..12803658,2	K562	blood:
21	chr7:12789976..12792361-chr7:12795351..12797605,3	K562	blood:
22	chr7:12750130..12753883-chr7:12807710..12810536,3	K562	blood:
23	chr7:12726782..12730856-chr7:12786259..12790916,5	K562	blood:
24	chr7:12795575..12798544-chr7:12800834..12803658,2	K562	blood:
25	chr7:12805050..12807862-chr7:12810613..12813616,3	K562	blood:
26	chr7:12732885..12735761-chr7:12786840..12788734,2	K562	blood:
27	chr7:12773325..12775846-chr7:12777370..12779405,2	K562	blood:
28	chr7:12773603..12776314-chr7:12785559..12788472,3	K562	blood:
29	chr7:12728909..12731157-chr7:12785382..12787852,3	K562	blood:
30	chr7:12775054..12776662-chr7:12793532..12795288,2	K562	blood:
31	chr7:12726393..12728839-chr7:12782362..12787533,4	K562	blood:
32	chr7:12802710..12805631-chr7:12843539..12845086,2	K562	blood:
33	chr7:12768354..12771175-chr7:12788288..12790278,2	K562	blood:
34	chr7:12725074..12728787-chr7:12804273..12807099,3	K562	blood:
35	chr7:12724986..12727818-chr7:12816142..12817868,2	K562	blood:
36	chr7:12807281..12809251-chr7:12830118..12832463,2	K562	blood:
37	chr7:12727781..12730322-chr7:12817926..12821146,3	K562	blood:
38	chr7:12800803..12802500-chr7:12804614..12806992,2	K562	blood:
39	chr7:12789976..12792361-chr7:12795351..12797605,3	K562	blood:
40	chr7:12768764..12771206-chr7:12785480..12787516,3	K562	blood:
41	chr7:12816193..12818807-chr7:12819189..12821870,3	K562	blood:
42	chr7:12796602..12799104-chr7:12801716..12803667,2	K562	blood:
43	chr7:12754316..12756005-chr7:12789154..12791426,2	K562	blood:
44	chr7:12778078..12781054-chr7:12784159..12786247,3	K562	blood:
45	chr7:12775054..12776736-chr7:12793008..12795288,3	K562	blood:
46	chr7:12788529..12790029-chr7:12952812..12954749,2	K562	blood:
47	chr7:12778078..12781054-chr7:12784159..12786247,3	K562	blood:
48	chr7:12726249..12728170-chr7:12818425..12821332,2	MCF-7	breast:
49	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
50	chr7:12774986..12777749-chr7:12783084..12785237,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 2255 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2255 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1524937	chr7:12777308-12777309	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75820582	chr7:12777350-12777351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115540907	chr7:12777356-12777357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559137122	chr7:12777402-12777403	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577664849	chr7:12777412-12777413	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs386710447	chr7:12777432-12777433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112492485	chr7:12777433-12777434	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs10245205	chr7:12777434-12777435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541599610	chr7:12777444-12777445	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79890633	chr7:12777459-12777460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571937140	chr7:12777466-12777467	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187940448	chr7:12777497-12777498	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146991853	chr7:12777526-12777527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6954577	chr7:12777556-12777557	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192806419	chr7:12777566-12777567	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78411944	chr7:12777598-12777599	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184220809	chr7:12777623-12777624	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6954600	chr7:12777641-12777642	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528404223	chr7:12777685-12777686	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568564309	chr7:12777701-12777702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs377043110	chr7:12777725-12777726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs76423305	chr7:12777742-12777743	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189451792	chr7:12777743-12777744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540184684	chr7:12777779-12777780	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556116309	chr7:12777791-12777792	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200837134	chr7:12777805-12777806	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575990784	chr7:12777829-12777830	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76992388	chr7:12777832-12777833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538659656	chr7:12777846-12777847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6955313	chr7:12777861-12777862	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375161447	chr7:12777891-12777892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181766340	chr7:12777927-12777928	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148937773	chr7:12777936-12777937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368913787	chr7:12777937-12777938	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111352392	chr7:12777954-12777955	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563985969	chr7:12778007-12778008	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577505124	chr7:12778021-12778022	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540890757	chr7:12778082-12778083	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543384732	chr7:12778089-12778090	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs116729981	chr7:12778103-12778104	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184403395	chr7:12778105-12778106	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542220633	chr7:12778127-12778128	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114142954	chr7:12778175-12778176	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs527792891	chr7:12778201-12778202	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150113658	chr7:12778224-12778225	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs57452384	chr7:12778247-12778248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567499799	chr7:12778251-12778252	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533653914	chr7:12778263-12778264	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112188069	chr7:12778276-12778277	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138417995	chr7:12778279-12778280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12771200-12789400	Weak transcription	Psoas Muscle	Psoas
2	chr7:12776800-12777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:12776800-12778000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:12777000-12777400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:12777000-12777400	Enhancers	Fetal Stomach	stomach
6	chr7:12777000-12777400	Enhancers	Hela-S3	cervix
7	chr7:12777000-12777800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:12777000-12778200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:12777000-12778400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:12777000-12778600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:12777000-12778600	Enhancers	Adipose Nuclei	Adipose
12	chr7:12777000-12778600	Flanking Active TSS	K562	blood
13	chr7:12777800-12778600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:12778000-12779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:12778200-12778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:12778200-12779000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:12778600-12782200	Enhancers	K562	blood
18	chr7:12779000-12779200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:12779000-12779400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:12779200-12779400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:12781200-12781400	Enhancers	HMEC	breast
22	chr7:12781200-12781600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:12781200-12782000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:12781200-12782000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:12781200-12782200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:12781400-12782000	Weak transcription	HMEC	breast
27	chr7:12781400-12782400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:12781600-12782400	Enhancers	NH-A	brain
29	chr7:12782000-12782200	Enhancers	HMEC	breast
30	chr7:12782200-12783200	Weak transcription	K562	blood
31	chr7:12782200-12787600	Weak transcription	HMEC	breast
32	chr7:12783200-12785400	Enhancers	K562	blood
33	chr7:12785200-12786200	Enhancers	HUVEC	blood vessel
34	chr7:12785400-12787000	Weak transcription	K562	blood
35	chr7:12785600-12786000	Enhancers	HSMM	muscle
36	chr7:12785800-12786000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:12785800-12786200	Enhancers	NHEK	skin
38	chr7:12786000-12787600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:12786200-12787600	Weak transcription	HUVEC	blood vessel
40	chr7:12786800-12787400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:12787000-12788200	Flanking Active TSS	K562	blood
42	chr7:12787400-12789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:12787600-12787800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:12787600-12787800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:12787600-12788000	Enhancers	HMEC	breast
46	chr7:12787600-12788200	Enhancers	HUVEC	blood vessel
47	chr7:12787600-12788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:12787800-12788000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:12787800-12788000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:12787800-12788400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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