Variant report

Variant	nsv945285
Chromosome Location	chr1:214705327-214707354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214705937-214706512	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:214706531-214706602	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:214705508-214706071	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:214706305-214706374	Gliobla	brain:	n/a	n/a
5	REST	chr1:214705470-214705711	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr1:214705274-214705474	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214697599..214700656-chr1:214706044..214709050,3	K562	blood:

Variant related genes	Relation type
KRT18P12	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549538657	chr1:214705335-214705336	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182337598	chr1:214705336-214705337	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs137987904	chr1:214705440-214705441	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548853794	chr1:214705485-214705486	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565880261	chr1:214705490-214705491	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11807154	chr1:214705518-214705519	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557899094	chr1:214705519-214705520	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115224347	chr1:214705600-214705601	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186248918	chr1:214705608-214705609	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191005647	chr1:214705616-214705617	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117902763	chr1:214705618-214705619	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543290292	chr1:214705662-214705663	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142601276	chr1:214705666-214705667	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6665957	chr1:214705676-214705677	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540988671	chr1:214705705-214705706	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568060762	chr1:214705706-214705707	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145963602	chr1:214705716-214705717	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532819952	chr1:214705750-214705751	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537191434	chr1:214705752-214705753	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138626883	chr1:214705800-214705801	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563081501	chr1:214705834-214705835	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529048521	chr1:214705920-214705921	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548792290	chr1:214705930-214705931	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565947321	chr1:214705957-214705958	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528391076	chr1:214705958-214705959	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141144651	chr1:214705959-214705960	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571554287	chr1:214705968-214705969	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537501591	chr1:214706011-214706012	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557487736	chr1:214706033-214706034	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567790201	chr1:214706037-214706038	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536826922	chr1:214706068-214706069	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76165241	chr1:214706111-214706112	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573456934	chr1:214706125-214706126	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545383470	chr1:214706131-214706132	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182840921	chr1:214706132-214706133	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188446727	chr1:214706136-214706137	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543058492	chr1:214706152-214706153	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546522638	chr1:214706199-214706200	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150707704	chr1:214706202-214706203	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528987957	chr1:214706205-214706206	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192862861	chr1:214706223-214706224	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559304853	chr1:214706224-214706225	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556667665	chr1:214706249-214706250	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551396370	chr1:214706255-214706256	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571563879	chr1:214706259-214706260	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570456308	chr1:214706300-214706301	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551029727	chr1:214706310-214706311	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61820692	chr1:214706332-214706333	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370499053	chr1:214706339-214706340	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567730056	chr1:214706340-214706341	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214688400-214706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:214688400-214710600	Weak transcription	Spleen	Spleen
4	chr1:214690600-214705600	Weak transcription	Ovary	ovary
5	chr1:214690600-214705600	Weak transcription	Pancreas	Pancrea
6	chr1:214691400-214705600	Weak transcription	Placenta	Placenta
7	chr1:214692400-214710600	Weak transcription	HUVEC	blood vessel
8	chr1:214694400-214706400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214694600-214705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:214697800-214706000	Weak transcription	Lung	lung
11	chr1:214698800-214710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:214699000-214705400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:214699200-214705600	Weak transcription	Gastric	stomach
14	chr1:214699200-214706200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:214699200-214706200	Weak transcription	Esophagus	oesophagus
16	chr1:214699200-214711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:214699200-214711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:214699200-214722000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:214699200-214722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:214699400-214705400	Weak transcription	Fetal Stomach	stomach
21	chr1:214699400-214706000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:214699600-214705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:214699600-214705400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:214699800-214715200	Weak transcription	Stomach Mucosa	stomach
25	chr1:214700000-214705400	Weak transcription	NHLF	lung
26	chr1:214700000-214706000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:214700600-214705400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:214700800-214706400	Weak transcription	Left Ventricle	heart
29	chr1:214700800-214711400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:214701200-214705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:214701200-214705600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:214701200-214710400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:214701200-214710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:214701200-214710800	Weak transcription	NH-A	brain
35	chr1:214701200-214719000	Weak transcription	Hela-S3	cervix
36	chr1:214701400-214705400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:214701400-214710600	Weak transcription	NHDF-Ad	bronchial
38	chr1:214701600-214710400	Weak transcription	A549	lung
39	chr1:214702200-214706800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:214702800-214718800	Weak transcription	Aorta	Aorta
41	chr1:214703000-214705400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:214703000-214705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:214703000-214710600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:214703000-214711600	Weak transcription	Psoas Muscle	Psoas
45	chr1:214703600-214706600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:214703600-214710400	Weak transcription	Small Intestine	intestine
47	chr1:214703800-214706000	Enhancers	Fetal Brain Male	brain
48	chr1:214703800-214711800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:214704000-214705400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:214704000-214706000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links