Variant report

Variant	esv3409784
Chromosome Location	chr18:29197491-29200132
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	chr18:29197834..29199382-chr18:29200132..29202800,2	MCF-7	breast:
2	chr18:29197834..29199382-chr18:29200132..29202800,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144544095	chr18:29197496-29197497	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1791193	chr18:29197626-29197627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375983331	chr18:29197720-29197721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528481409	chr18:29197765-29197766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563371417	chr18:29197814-29197815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530802306	chr18:29197817-29197818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1791192	chr18:29197849-29197850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567263409	chr18:29197899-29197900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188555910	chr18:29197904-29197905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542893019	chr18:29197906-29197907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561291290	chr18:29197908-29197909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528103440	chr18:29197912-29197913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546332149	chr18:29197938-29197939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571343115	chr18:29197967-29197968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375650218	chr18:29198020-29198021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181639264	chr18:29198021-29198022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374685586	chr18:29198032-29198033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200552636	chr18:29198035-29198036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28704012	chr18:29198036-29198037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201630562	chr18:29198043-29198044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59809042	chr18:29198055-29198056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558316981	chr18:29198068-29198069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570185339	chr18:29198079-29198080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537337690	chr18:29198099-29198100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555647718	chr18:29198100-29198101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573648965	chr18:29198131-29198132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541046646	chr18:29198148-29198149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553156637	chr18:29198149-29198150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28755963	chr18:29198182-29198183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578036854	chr18:29198188-29198189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190492358	chr18:29198198-29198199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563494362	chr18:29198205-29198206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182383117	chr18:29198211-29198212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151220914	chr18:29198223-29198224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186112990	chr18:29198228-29198229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565400181	chr18:29198230-29198231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140958014	chr18:29198238-29198239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150182448	chr18:29198239-29198240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145772982	chr18:29198275-29198276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532214899	chr18:29198286-29198287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112981156	chr18:29198305-29198306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145683297	chr18:29198307-29198308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549234587	chr18:29198311-29198312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567633379	chr18:29198330-29198331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535018209	chr18:29198382-29198383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191065903	chr18:29198390-29198391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527243969	chr18:29198392-29198393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200769506	chr18:29198393-29198394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180740377	chr18:29198399-29198400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539112319	chr18:29198437-29198438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29191200-29201400	Weak transcription	Fetal Brain Male	brain
2	chr18:29191400-29207000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:29191400-29207800	Weak transcription	Fetal Intestine Large	intestine
4	chr18:29191600-29205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:29191800-29204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:29191800-29207800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:29192200-29206200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr18:29192400-29217400	Weak transcription	Left Ventricle	heart
9	chr18:29194800-29205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr18:29194800-29226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:29195200-29204800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:29195400-29205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:29195600-29206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:29196800-29197800	Enhancers	GM12878-XiMat	blood
15	chr18:29197000-29197600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:29197000-29197600	Enhancers	Brain Anterior Caudate	brain
17	chr18:29197000-29205200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:29197200-29197600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:29197200-29197600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:29197200-29197600	Enhancers	Fetal Intestine Small	intestine
21	chr18:29197200-29197600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr18:29197200-29210600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:29197400-29197600	Enhancers	Brain Germinal Matrix	brain
24	chr18:29197400-29207800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr18:29197600-29197800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:29197600-29198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:29197600-29204800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:29197600-29204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr18:29197600-29206400	Weak transcription	Fetal Intestine Small	intestine
30	chr18:29197600-29224800	Weak transcription	Brain Anterior Caudate	brain
31	chr18:29197600-29224800	Weak transcription	Brain Germinal Matrix	brain
32	chr18:29197800-29204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:29197800-29206200	Weak transcription	GM12878-XiMat	blood
34	chr18:29198000-29200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:29198400-29204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:29198800-29200000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29198800-29200000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:29198800-29200200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:29198800-29200200	Enhancers	NHEK	skin
40	chr18:29199000-29200200	Enhancers	HMEC	breast
41	chr18:29199200-29199800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:29199200-29212400	Weak transcription	Aorta	Aorta
43	chr18:29199800-29200000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr18:29199800-29204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:29199800-29217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:29200000-29201200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:29200000-29202400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:29200000-29204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:29200000-29222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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