Variant report

Variant	esv1816420
Chromosome Location	chr18:29201648-29207155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29197834..29199382-chr18:29200132..29202800,2	MCF-7	breast:
2	chr18:29135623..29136433-chr18:29206170..29207050,3	MCF-7	breast:
3	chr18:29145542..29146264-chr18:29205706..29207014,3	MCF-7	breast:
4	chr18:29201280..29203716-chr18:29264569..29266264,2	MCF-7	breast:
5	chr18:29206102..29208678-chr18:29263634..29265873,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259985	chromatin interactions
ENSG00000118276	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2595360	chr18:29201648-29201649	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557531560	chr18:29201663-29201664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576187278	chr18:29201675-29201676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186777897	chr18:29201854-29201855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556789793	chr18:29201856-29201857	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549834460	chr18:29201869-29201870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575125380	chr18:29201905-29201906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568193647	chr18:29201961-29201962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563325762	chr18:29202010-29202011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs77563974	chr18:29202039-29202040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560842765	chr18:29202043-29202044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150233857	chr18:29202049-29202050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546194225	chr18:29202053-29202054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564174326	chr18:29202075-29202076	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531672893	chr18:29202092-29202093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543558728	chr18:29202154-29202155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79242721	chr18:29202210-29202211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529065039	chr18:29202289-29202290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138954612	chr18:29202333-29202334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191909751	chr18:29202395-29202396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533106908	chr18:29202407-29202408	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551331880	chr18:29202409-29202410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149422375	chr18:29202453-29202454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567619441	chr18:29202473-29202474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183304335	chr18:29202535-29202536	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555510363	chr18:29202560-29202561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568622263	chr18:29202595-29202596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536068413	chr18:29202616-29202617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116203117	chr18:29202618-29202619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201948853	chr18:29202619-29202620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572684121	chr18:29202641-29202642	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546207991	chr18:29202662-29202663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs568732092	chr18:29202678-29202679	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576000830	chr18:29202691-29202692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557728644	chr18:29202747-29202748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576069391	chr18:29202752-29202753	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187794863	chr18:29202756-29202757	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143811512	chr18:29202772-29202773	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529053166	chr18:29202782-29202783	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs137938811	chr18:29202830-29202831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs193170324	chr18:29202850-29202851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143416107	chr18:29202874-29202875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551738913	chr18:29202889-29202890	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569628554	chr18:29202915-29202916	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115186394	chr18:29202925-29202926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549070624	chr18:29202927-29202928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs17803165	chr18:29202951-29202952	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147177441	chr18:29202958-29202959	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547190829	chr18:29202963-29202964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140359087	chr18:29202971-29202972	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29191400-29207000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:29191400-29207800	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29191600-29205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:29191800-29204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:29191800-29207800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:29192200-29206200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:29192400-29217400	Weak transcription	Left Ventricle	heart
8	chr18:29194800-29205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr18:29194800-29226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:29195200-29204800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:29195400-29205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:29195600-29206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:29197000-29205200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:29197200-29210600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:29197400-29207800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:29197600-29204800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:29197600-29204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:29197600-29206400	Weak transcription	Fetal Intestine Small	intestine
19	chr18:29197600-29224800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:29197600-29224800	Weak transcription	Brain Germinal Matrix	brain
21	chr18:29197800-29204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:29197800-29206200	Weak transcription	GM12878-XiMat	blood
23	chr18:29198400-29204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:29199200-29212400	Weak transcription	Aorta	Aorta
25	chr18:29199800-29204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:29199800-29217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:29200000-29202400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:29200000-29204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:29200000-29222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:29200200-29208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:29200200-29222000	Weak transcription	HMEC	breast
32	chr18:29200400-29210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:29200800-29206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:29201200-29204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:29201400-29205400	Weak transcription	Dnd41	blood
36	chr18:29201600-29201800	Weak transcription	Fetal Brain Male	brain
37	chr18:29201600-29206200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:29202400-29203200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:29202800-29235000	Weak transcription	Pancreas	Pancrea
40	chr18:29202800-29240200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:29203000-29208000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:29203200-29217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:29203400-29211000	Weak transcription	HUVEC	blood vessel
44	chr18:29203800-29207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:29203800-29220200	Weak transcription	Ovary	ovary
46	chr18:29203800-29226000	Weak transcription	Fetal Lung	lung
47	chr18:29203800-29227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:29204000-29210000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr18:29204000-29210400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:29204000-29210400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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