Variant report

Variant	nsv970447
Chromosome Location	chr7:12727573-12729164
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
2	chr7:12727781..12730322-chr7:12817926..12821146,3	K562	blood:
3	chr3:49044397..49045062-chr7:12727150..12727662,2	Hela-S3	cervix:
4	chr12:70636454..70637138-chr7:12726998..12727610,2	NB4	blood:
5	chr1:201475785..201476542-chr7:12726733..12727723,2	Hela-S3	cervix:
6	chr7:12726564..12728069-chr7:14030537..14032719,2	K562	blood:
7	chr7:12728919..12730458-chr7:12808880..12810657,2	K562	blood:
8	chr7:12728909..12731157-chr7:12785382..12787852,3	K562	blood:
9	chr7:12727182..12727729-chr9:131445702..131446218,2	Hela-S3	cervix:
10	chr7:12728952..12731852-chr7:12897626..12900173,2	K562	blood:
11	chr7:12569916..12571808-chr7:12727581..12730204,2	K562	blood:
12	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
13	chr7:12727333..12730021-chr7:12763089..12765693,3	K562	blood:
14	chr7:12728794..12731512-chr7:12834236..12836117,2	K562	blood:
15	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:
16	chr7:12608764..12610772-chr7:12727255..12728888,2	K562	blood:
17	chr12:110905653..110906206-chr7:12726777..12727655,2	Hela-S3	cervix:
18	chr7:12726569..12729103-chr7:14030562..14032719,2	K562	blood:
19	chr16:2013425..2016345-chr7:12728816..12730609,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111231	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000006747	chromatin interactions
ENSG00000257815	chromatin interactions
ENSG00000006468	chromatin interactions
ENSG00000159176	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000204856	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000224536	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000111596	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561505636	chr7:12727596-12727597	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs551973652	chr7:12727623-12727624	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs570623112	chr7:12727625-12727626	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs35044018	chr7:12727634-12727635	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556528334	chr7:12727648-12727649	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs192638365	chr7:12727649-12727650	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs575691921	chr7:12727650-12727651	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs538281270	chr7:12727668-12727669	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs555095449	chr7:12727681-12727682	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs574987322	chr7:12727735-12727736	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540430936	chr7:12727757-12727758	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560752927	chr7:12727767-12727768	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577437514	chr7:12727770-12727771	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs13232089	chr7:12727781-12727782	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117537847	chr7:12727793-12727794	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565661175	chr7:12727795-12727796	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531205397	chr7:12727799-12727800	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547786228	chr7:12727814-12727815	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115175624	chr7:12727821-12727822	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2280633	chr7:12727826-12727827	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs551355902	chr7:12727832-12727833	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs202195103	chr7:12727853-12727854	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184612823	chr7:12727864-12727865	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs55962033	chr7:12727884-12727885	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140399629	chr7:12727906-12727907	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150387436	chr7:12727909-12727910	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138127053	chr7:12727917-12727918	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550088104	chr7:12727939-12727940	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144595174	chr7:12727967-12727968	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138601015	chr7:12727978-12727979	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538193302	chr7:12727981-12727982	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149263257	chr7:12727996-12727997	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555011940	chr7:12728024-12728025	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574805212	chr7:12728047-12728048	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373744942	chr7:12728059-12728060	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143764959	chr7:12728128-12728129	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367580414	chr7:12728189-12728190	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148129032	chr7:12728213-12728214	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs4027602	chr7:12728254-12728255	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554001214	chr7:12728284-12728285	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs3951093	chr7:12728290-12728291	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556731276	chr7:12728319-12728320	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577360442	chr7:12728336-12728337	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs546036991	chr7:12728341-12728342	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs2356696	chr7:12728357-12728358	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4027603	chr7:12728372-12728373	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371070380	chr7:12728380-12728381	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs4027605	chr7:12728455-12728456	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567173133	chr7:12728465-12728466	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112853446	chr7:12728489-12728490	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12727600	Active TSS	Brain Substantia Nigra	brain
2	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:12725400-12727600	Active TSS	Brain Hippocampus Middle	brain
4	chr7:12725400-12727800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:12725400-12728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:12725400-12728000	Active TSS	NHDF-Ad	bronchial
7	chr7:12725400-12728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
12	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
14	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
16	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
17	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:12725800-12727600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:12725800-12727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr7:12725800-12728000	Active TSS	Brain Germinal Matrix	brain
21	chr7:12725800-12728000	Active TSS	Colon Smooth Muscle	Colon
22	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
24	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
25	chr7:12725800-12730400	Active TSS	Right Atrium	heart
26	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
27	chr7:12726000-12727600	Active TSS	Aorta	Aorta
28	chr7:12726000-12727600	Active TSS	Lung	lung
29	chr7:12726000-12727600	Active TSS	Spleen	Spleen
30	chr7:12726000-12727800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:12726000-12727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:12726000-12727800	Active TSS	Ovary	ovary
33	chr7:12726000-12727800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr7:12726000-12728000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:12726000-12728000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:12726000-12728000	Active TSS	Gastric	stomach
37	chr7:12726000-12728000	Active TSS	Pancreas	Pancrea
38	chr7:12726000-12728000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:12726000-12728000	Active TSS	Stomach Mucosa	stomach
40	chr7:12726000-12728000	Active TSS	Thymus	Thymus
41	chr7:12726000-12728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:12726000-12728200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:12726000-12728800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:12726000-12728800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:12726000-12728800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:12726000-12728800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:12726000-12728800	Active TSS	A549	lung
48	chr7:12726000-12729000	Active TSS	Esophagus	oesophagus
49	chr7:12726000-12729200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:12726000-12730000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links