Variant report

Variant	esv3354454
Chromosome Location	chr1:113797629-113802027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113796275..113798193-chr1:113931780..113933587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554009022	chr1:113797646-113797647	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140606812	chr1:113797733-113797734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574445740	chr1:113797865-113797866	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540351657	chr1:113797870-113797871	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144646197	chr1:113797882-113797883	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560691499	chr1:113797955-113797956	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572178854	chr1:113798005-113798006	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532625959	chr1:113798011-113798012	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80187861	chr1:113798013-113798014	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191195038	chr1:113798063-113798064	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531545626	chr1:113798064-113798065	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548462646	chr1:113798083-113798084	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375870508	chr1:113798145-113798146	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368265520	chr1:113798204-113798205	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547530077	chr1:113798268-113798269	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570487781	chr1:113798285-113798286	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147872422	chr1:113798335-113798336	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558932603	chr1:113798336-113798337	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs79582508	chr1:113798342-113798343	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371857784	chr1:113798350-113798351	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183384711	chr1:113798351-113798352	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538159854	chr1:113798382-113798383	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531702757	chr1:113798425-113798426	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140506388	chr1:113798446-113798447	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574509195	chr1:113798490-113798491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540266169	chr1:113798531-113798532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188616143	chr1:113798551-113798552	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76098975	chr1:113798581-113798582	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150001523	chr1:113798591-113798592	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562547823	chr1:113798593-113798594	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192749840	chr1:113798623-113798624	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184204502	chr1:113798626-113798627	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533854071	chr1:113798629-113798630	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561928603	chr1:113798682-113798683	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs367887647	chr1:113798686-113798687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527567095	chr1:113798719-113798720	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs773612	chr1:113798723-113798724	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570656127	chr1:113798737-113798738	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570424083	chr1:113798778-113798779	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532925031	chr1:113798779-113798780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375784061	chr1:113798831-113798832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188384625	chr1:113798887-113798888	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569374327	chr1:113798900-113798901	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs538016801	chr1:113799081-113799082	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114565163	chr1:113799087-113799088	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115031586	chr1:113799096-113799097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534220896	chr1:113799128-113799129	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537685163	chr1:113799148-113799149	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553921554	chr1:113799164-113799165	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs17031234	chr1:113799209-113799210	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113791400-113798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:113793800-113798600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:113794600-113799600	Enhancers	Fetal Intestine Small	intestine
4	chr1:113794800-113798200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:113794800-113798600	Enhancers	Fetal Intestine Large	intestine
6	chr1:113795200-113798000	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:113795400-113798000	Enhancers	Fetal Kidney	kidney
8	chr1:113795600-113798200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:113795600-113798600	Weak transcription	Colonic Mucosa	Colon
10	chr1:113795600-113799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:113796000-113799200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:113796000-113799200	Enhancers	Liver	Liver
13	chr1:113796000-113799400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:113796000-113799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:113796200-113799400	Enhancers	Stomach Mucosa	stomach
16	chr1:113796600-113798000	Weak transcription	Brain Germinal Matrix	brain
17	chr1:113796600-113799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:113796600-113799600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:113797000-113799600	Enhancers	Fetal Lung	lung
20	chr1:113797400-113798400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:113797600-113797800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:113797600-113798000	Enhancers	Fetal Stomach	stomach
23	chr1:113797600-113798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:113797600-113798600	Weak transcription	Pancreas	Pancrea
25	chr1:113797600-113798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:113797600-113798800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:113797600-113798800	Enhancers	HepG2	liver
28	chr1:113797600-113799200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:113797800-113799000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:113797800-113799200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:113798000-113798200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr1:113798000-113798200	Flanking Active TSS	Fetal Kidney	kidney
33	chr1:113798000-113798400	Weak transcription	Fetal Stomach	stomach
34	chr1:113798000-113799000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr1:113798000-113799000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:113798000-113799000	Enhancers	Brain Germinal Matrix	brain
37	chr1:113798000-113799000	Enhancers	NHEK	skin
38	chr1:113798000-113799200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:113798000-113799200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:113798000-113799400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:113798200-113798400	Enhancers	Fetal Kidney	kidney
42	chr1:113798200-113798600	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:113798200-113798800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:113798200-113798800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:113798200-113798800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:113798200-113799000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:113798200-113799600	Enhancers	Placenta	Placenta
48	chr1:113798400-113798600	Flanking Active TSS	Fetal Kidney	kidney
49	chr1:113798400-113798600	Enhancers	Small Intestine	intestine
50	chr1:113798400-113799000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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