Variant report

Variant	nsv1054616
Chromosome Location	chr10:18433954-18451969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18440418..18442288-chr10:18448031..18451396,3	K562	blood:
2	chr10:18440418..18442288-chr10:18448031..18451396,3	K562	blood:
3	chr10:18450176..18452419-chr10:18453993..18456131,2	K562	blood:

Extended variants
information (count: 810 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560478398	chr10:18433971-18433972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1571787	chr10:18433986-18433987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs540498789	chr10:18434000-18434001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs75631828	chr10:18434016-18434017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532310067	chr10:18434061-18434062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550448938	chr10:18434068-18434069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562592488	chr10:18434099-18434100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542827079	chr10:18434109-18434110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7079986	chr10:18434138-18434139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192611777	chr10:18434146-18434147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2840320	chr10:18434190-18434191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534258493	chr10:18434277-18434278	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552431545	chr10:18434283-18434284	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146396031	chr10:18434287-18434288	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372299601	chr10:18434290-18434291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538425552	chr10:18434304-18434305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200610391	chr10:18434343-18434344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs397735157	chr10:18434353-18434354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556441240	chr10:18434362-18434363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574878936	chr10:18434381-18434382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs58541775	chr10:18434403-18434404	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs58333581	chr10:18434413-18434414	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535923099	chr10:18434424-18434425	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs59397961	chr10:18434432-18434433	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554223926	chr10:18434508-18434509	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139733737	chr10:18434509-18434510	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12247369	chr10:18434591-18434592	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115457367	chr10:18434609-18434610	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577003628	chr10:18434615-18434616	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577485227	chr10:18434639-18434640	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541145181	chr10:18434655-18434656	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544403446	chr10:18434666-18434667	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562518270	chr10:18434685-18434686	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184548164	chr10:18434728-18434729	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547868920	chr10:18434751-18434752	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552778326	chr10:18434764-18434765	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559745601	chr10:18434789-18434790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs527288423	chr10:18434823-18434824	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189320460	chr10:18434883-18434884	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150041732	chr10:18434889-18434890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145313602	chr10:18434899-18434900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550369945	chr10:18434903-18434904	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs114308674	chr10:18434906-18434907	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79825106	chr10:18434912-18434913	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575183153	chr10:18434933-18434934	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148753281	chr10:18434943-18434944	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566123845	chr10:18434956-18434957	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142324253	chr10:18434993-18434994	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11012800	chr10:18435006-18435007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1331330	chr10:18435016-18435017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18430600-18446400	Weak transcription	Brain Angular Gyrus	brain
2	chr10:18430800-18434800	Weak transcription	Left Ventricle	heart
3	chr10:18430800-18442400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:18431000-18440600	Weak transcription	Fetal Intestine Small	intestine
5	chr10:18431200-18434600	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:18431200-18437400	Weak transcription	Fetal Stomach	stomach
7	chr10:18431200-18440600	Weak transcription	Aorta	Aorta
8	chr10:18431200-18447800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:18431200-18447800	Weak transcription	Fetal Intestine Large	intestine
10	chr10:18431400-18437600	Weak transcription	Right Ventricle	heart
11	chr10:18431400-18440600	Weak transcription	Ovary	ovary
12	chr10:18431400-18441200	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:18431400-18468800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:18432200-18435200	Enhancers	Fetal Heart	heart
15	chr10:18432400-18434400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:18432400-18440000	Weak transcription	Fetal Brain Male	brain
17	chr10:18432600-18446800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:18432600-18448000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:18432800-18434600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:18433000-18434000	Enhancers	Stomach Smooth Muscle	stomach
21	chr10:18433200-18435400	Enhancers	Colon Smooth Muscle	Colon
22	chr10:18433600-18434200	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:18433600-18434800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr10:18433600-18436000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:18433800-18434000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:18433800-18434200	Enhancers	Pancreas	Pancrea
27	chr10:18433800-18435000	Enhancers	Brain Anterior Caudate	brain
28	chr10:18433800-18435200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:18433800-18435400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:18433800-18435400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:18433800-18435400	Enhancers	Fetal Lung	lung
32	chr10:18434000-18434200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:18434000-18434400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr10:18434000-18434800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:18434200-18444000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr10:18434200-18448000	Weak transcription	Pancreas	Pancrea
37	chr10:18434400-18434800	Active TSS	Stomach Smooth Muscle	stomach
38	chr10:18434400-18435000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:18434400-18435000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:18434400-18435200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:18434600-18434800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr10:18434600-18434800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:18434600-18435000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:18434600-18435000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:18434600-18435000	Enhancers	Brain Hippocampus Middle	brain
46	chr10:18434600-18435200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:18434800-18435000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:18434800-18435000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr10:18434800-18435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:18434800-18435000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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