Variant report

Variant	esv3499381
Chromosome Location	chr10:838902-841150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:461779..462665-chr10:840464..841138,2	MCF-7	breast:
2	chr10:840517..842192-chr10:842666..844549,2	MCF-7	breast:
3	chr10:180500..182203-chr10:836766..839418,2	MCF-7	breast:
4	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:
5	chr10:840309..840941-chr10:856321..856837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000015171	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187872983	chr10:838986-838987	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537428141	chr10:839001-839002	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554877092	chr10:839020-839021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574758666	chr10:839036-839037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1536339	chr10:839037-839038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147848261	chr10:839125-839126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539682308	chr10:839128-839129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373674675	chr10:839167-839168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560272407	chr10:839185-839186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577355492	chr10:839196-839197	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575381828	chr10:839207-839208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552142406	chr10:839229-839230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367819245	chr10:839263-839264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193192398	chr10:839313-839314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531763031	chr10:839322-839323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548564797	chr10:839360-839361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561187244	chr10:839387-839388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529967184	chr10:839388-839389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547195772	chr10:839400-839401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141476813	chr10:839403-839404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146322816	chr10:839435-839436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372078069	chr10:839510-839511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562792702	chr10:839556-839557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61831437	chr10:839610-839611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs368021593	chr10:839617-839618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568844948	chr10:839624-839625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537464430	chr10:839634-839635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554116805	chr10:839650-839651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56202496	chr10:839658-839659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371882334	chr10:839673-839674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56120219	chr10:839689-839690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574801146	chr10:839713-839714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112981677	chr10:839735-839736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534260566	chr10:839753-839754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76723479	chr10:839754-839755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369827171	chr10:839772-839773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577394900	chr10:839777-839778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372845276	chr10:839778-839779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111606720	chr10:839825-839826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77122258	chr10:839826-839827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369105151	chr10:839833-839834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546062247	chr10:839838-839839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563011781	chr10:839857-839858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373341187	chr10:839858-839859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576576039	chr10:839866-839867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79599851	chr10:839873-839874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376342415	chr10:839874-839875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56116535	chr10:839879-839880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113389295	chr10:839889-839890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77531626	chr10:839890-839891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831400-850000	Weak transcription	Fetal Heart	heart
2	chr10:835000-841800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:835400-843000	Weak transcription	Aorta	Aorta
4	chr10:835600-841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:835600-841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:835600-842800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:835600-853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:835800-839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:835800-852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:836000-839200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:836000-840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:836000-841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:836000-842000	Weak transcription	A549	lung
14	chr10:836000-849000	Weak transcription	Right Ventricle	heart
15	chr10:836000-849400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr10:836000-852000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:836000-852800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:836200-840600	Weak transcription	Spleen	Spleen
19	chr10:836200-842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:836200-850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:836200-852000	Weak transcription	Ovary	ovary
22	chr10:836200-852400	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:836200-852600	Weak transcription	Osteobl	bone
24	chr10:836400-839000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:836400-848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:836400-850400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:836600-853000	Weak transcription	Stomach Mucosa	stomach
28	chr10:837000-842800	Weak transcription	Placenta	Placenta
29	chr10:837200-843000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:837800-848400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:838000-839400	Enhancers	Fetal Stomach	stomach
32	chr10:838000-843000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:838000-851200	Weak transcription	Gastric	stomach
34	chr10:838200-839200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:838200-839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:838200-839400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:838200-839400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:838200-839400	Enhancers	HSMM	muscle
39	chr10:838200-840000	Weak transcription	Esophagus	oesophagus
40	chr10:838400-842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:838600-839400	Enhancers	Fetal Muscle Leg	muscle
42	chr10:838800-839200	Flanking Active TSS	HSMMtube	muscle
43	chr10:838800-839200	Enhancers	NH-A	brain
44	chr10:838800-839200	Enhancers	NHDF-Ad	bronchial
45	chr10:838800-839400	Enhancers	NHLF	lung
46	chr10:839000-839200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:839200-839400	Enhancers	HSMMtube	muscle
48	chr10:839200-852800	Weak transcription	NHDF-Ad	bronchial
49	chr10:839400-842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:839400-842800	Weak transcription	Muscle Satellite Cultured Cells	--

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