Variant report

Variant	esv3435817
Chromosome Location	chr1:10835465-10839763
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10834395..10836864-chr1:10924588..10926735,2	MCF-7	breast:
2	chr1:10835909..10837640-chr1:10847012..10848890,2	MCF-7	breast:
3	chr1:10837835..10840476-chr1:10895758..10897278,2	MCF-7	breast:
4	chr1:10757865..10759730-chr1:10835841..10837432,3	MCF-7	breast:
5	chr1:10762949..10764545-chr1:10839417..10840947,2	MCF-7	breast:
6	chr1:10835278..10836793-chr1:10960559..10962268,2	MCF-7	breast:
7	chr1:10837831..10840252-chr1:10841183..10844636,3	K562	blood:
8	chr1:10837061..10839870-chr1:10864060..10865858,2	MCF-7	breast:
9	chr1:10831143..10833535-chr1:10835347..10836954,2	K562	blood:
10	chr1:10834165..10835714-chr1:10838855..10840791,2	K562	blood:
11	chr1:10838788..10840629-chr1:10854389..10855939,2	MCF-7	breast:
12	chr1:10824911..10826974-chr1:10833572..10835965,2	MCF-7	breast:
13	chr1:10831963..10834862-chr1:10839616..10841721,3	MCF-7	breast:
14	chr1:10834165..10835714-chr1:10838855..10840791,2	K562	blood:

No data

Extended variants
information (count: 176 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139665667	chr1:10835468-10835469	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536503768	chr1:10835494-10835495	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554590203	chr1:10835511-10835512	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569600347	chr1:10835514-10835515	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537079686	chr1:10835609-10835610	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558665126	chr1:10835659-10835660	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79958693	chr1:10835699-10835700	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541136978	chr1:10835706-10835707	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554294880	chr1:10835711-10835712	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115085250	chr1:10835719-10835720	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148376461	chr1:10835735-10835736	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144681543	chr1:10835761-10835762	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561456378	chr1:10835800-10835801	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189923966	chr1:10835802-10835803	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145770856	chr1:10835864-10835865	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565030684	chr1:10835865-10835866	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532431382	chr1:10835901-10835902	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540897450	chr1:10835951-10835952	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148501316	chr1:10836008-10836009	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565841751	chr1:10836030-10836031	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529863986	chr1:10836055-10836056	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560311387	chr1:10836079-10836080	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548449246	chr1:10836091-10836092	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569880450	chr1:10836094-10836095	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142776632	chr1:10836106-10836107	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151045683	chr1:10836111-10836112	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181019365	chr1:10836113-10836114	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185052807	chr1:10836115-10836116	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552808879	chr1:10836148-10836149	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572581606	chr1:10836206-10836207	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542877767	chr1:10836217-10836218	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377403841	chr1:10836266-10836267	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552428705	chr1:10836280-10836281	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191035764	chr1:10836292-10836293	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576367927	chr1:10836320-10836321	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183976709	chr1:10836330-10836331	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141418716	chr1:10836366-10836367	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs41307747	chr1:10836393-10836394	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541480765	chr1:10836446-10836447	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559625400	chr1:10836453-10836454	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529877445	chr1:10836455-10836456	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548132865	chr1:10836456-10836457	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369343697	chr1:10836506-10836507	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145188909	chr1:10836537-10836538	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78339406	chr1:10836554-10836555	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552520833	chr1:10836570-10836571	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550415767	chr1:10836574-10836575	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570428031	chr1:10836592-10836593	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534635759	chr1:10836724-10836725	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs546651207	chr1:10836730-10836731	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10830600-10837400	Enhancers	Left Ventricle	heart
2	chr1:10831800-10837600	Enhancers	Fetal Heart	heart
3	chr1:10832000-10837000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:10832000-10838000	Enhancers	Stomach Mucosa	stomach
5	chr1:10832000-10838600	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:10832000-10839000	Enhancers	Esophagus	oesophagus
7	chr1:10832400-10837200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:10832600-10853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:10832800-10837400	Enhancers	Right Atrium	heart
10	chr1:10833200-10836600	Weak transcription	Colonic Mucosa	Colon
11	chr1:10833400-10837400	Enhancers	Psoas Muscle	Psoas
12	chr1:10833800-10836800	Weak transcription	Lung	lung
13	chr1:10833800-10837800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:10834000-10835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:10834000-10836600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:10834200-10836400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:10834200-10837200	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:10834200-10839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:10834400-10836400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:10834400-10839400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:10834600-10835600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:10834600-10835800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10834600-10837200	Enhancers	Pancreas	Pancrea
24	chr1:10834800-10835600	Weak transcription	Gastric	stomach
25	chr1:10834800-10836000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:10834800-10836000	Flanking Active TSS	NHEK	skin
27	chr1:10835000-10835800	Enhancers	Brain Angular Gyrus	brain
28	chr1:10835000-10835800	Weak transcription	Right Ventricle	heart
29	chr1:10835000-10835800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:10835000-10835800	Enhancers	HMEC	breast
31	chr1:10835000-10837200	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:10835000-10837600	Strong transcription	Fetal Intestine Small	intestine
33	chr1:10835200-10836800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:10835200-10837600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:10835600-10835800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:10835600-10836200	Enhancers	Fetal Kidney	kidney
37	chr1:10835600-10837000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:10835600-10837800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:10835600-10838000	Enhancers	Gastric	stomach
40	chr1:10835800-10836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:10835800-10836800	Enhancers	Brain Germinal Matrix	brain
42	chr1:10835800-10837600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:10835800-10838000	Enhancers	Right Ventricle	heart
44	chr1:10835800-10838200	Weak transcription	HMEC	breast
45	chr1:10835800-10839400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:10835800-10840800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:10836000-10836600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr1:10836000-10837200	Enhancers	NHEK	skin
49	chr1:10836000-10838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:10836200-10837400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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