Variant report

Variant	esv3443222
Chromosome Location	chr1:10836465-10839763
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

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

No data

Extended variants
information (count: 134 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369343697	chr1:10836506-10836507	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145188909	chr1:10836537-10836538	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78339406	chr1:10836554-10836555	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552520833	chr1:10836570-10836571	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550415767	chr1:10836574-10836575	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570428031	chr1:10836592-10836593	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534635759	chr1:10836724-10836725	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs546651207	chr1:10836730-10836731	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs373325378	chr1:10836744-10836745	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs568644244	chr1:10836758-10836759	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs568107699	chr1:10836775-10836776	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs536841361	chr1:10836784-10836785	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs188673375	chr1:10836812-10836813	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554826648	chr1:10836866-10836867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576233888	chr1:10836877-10836878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116248038	chr1:10836881-10836882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115001263	chr1:10836886-10836887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191905716	chr1:10836889-10836890	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183229347	chr1:10837050-10837051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146833583	chr1:10837051-10837052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565581310	chr1:10837070-10837071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529210438	chr1:10837117-10837118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140672139	chr1:10837155-10837156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116682100	chr1:10837208-10837209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563444329	chr1:10837224-10837225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530740426	chr1:10837293-10837294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200065023	chr1:10837337-10837338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372065524	chr1:10837360-10837361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75587786	chr1:10837378-10837379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564397118	chr1:10837379-10837380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528084172	chr1:10837395-10837396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546317647	chr1:10837425-10837426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568055668	chr1:10837437-10837438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568956663	chr1:10837460-10837461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187330889	chr1:10837493-10837494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371361675	chr1:10837494-10837495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550674713	chr1:10837511-10837512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374968985	chr1:10837519-10837520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569883464	chr1:10837520-10837521	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191745466	chr1:10837525-10837526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538085756	chr1:10837548-10837549	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79070790	chr1:10837562-10837563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114397969	chr1:10837575-10837576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577165388	chr1:10837592-10837593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182418705	chr1:10837602-10837603	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182246	chr1:10837615-10837616	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553043998	chr1:10837629-10837630	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112035960	chr1:10837632-10837633	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186693667	chr1:10837652-10837653	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376964	chr1:10837699-10837700	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	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:141 , 50 per page) page: 1 2 3

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	chr1:10834000-10836600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:10834200-10837200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:10834200-10839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:10834400-10839400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:10834600-10837200	Enhancers	Pancreas	Pancrea
19	chr1:10835000-10837200	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:10835000-10837600	Strong transcription	Fetal Intestine Small	intestine
21	chr1:10835200-10836800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:10835200-10837600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:10835600-10837000	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:10835600-10837800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:10835600-10838000	Enhancers	Gastric	stomach
26	chr1:10835800-10836800	Enhancers	Brain Germinal Matrix	brain
27	chr1:10835800-10837600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:10835800-10838000	Enhancers	Right Ventricle	heart
29	chr1:10835800-10838200	Weak transcription	HMEC	breast
30	chr1:10835800-10839400	Weak transcription	Brain Angular Gyrus	brain
31	chr1:10835800-10840800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:10836000-10836600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr1:10836000-10837200	Enhancers	NHEK	skin
34	chr1:10836000-10838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:10836200-10837400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:10836200-10837600	Weak transcription	Fetal Kidney	kidney
37	chr1:10836400-10836600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:10836400-10838400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:10836400-10838600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:10836600-10836800	Bivalent Enhancer	Placenta	Placenta
41	chr1:10836600-10836800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:10836600-10837200	Enhancers	Colonic Mucosa	Colon
43	chr1:10836600-10839000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:10836800-10837200	Enhancers	Lung	lung
45	chr1:10836800-10838400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:10836800-10839800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:10837000-10838600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:10837000-10838800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:10837200-10837400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:10837200-10838200	Weak transcription	NHEK	skin

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