Variant report

Variant	esv3370933
Chromosome Location	chr18:12332352-12334000
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12327453..12330082-chr18:12330908..12334376,4	K562	blood:
2	chr18:12333793..12335382-chr18:12358022..12359784,2	K562	blood:
3	chr18:12333547..12336346-chr18:12375267..12377221,2	K562	blood:
4	chr18:12330971..12332498-chr18:12334634..12336451,2	K562	blood:
5	chr18:12327453..12329462-chr18:12331955..12334376,2	K562	blood:
6	chr18:12330814..12333752-chr18:12371346..12373010,2	MCF-7	breast:
7	chr18:12329605..12332394-chr18:12338535..12341169,2	K562	blood:
8	chr18:12304979..12308873-chr18:12332783..12336926,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176014	chromatin interactions
ENSG00000141385	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543426086	chr18:12332497-12332498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541653313	chr18:12332506-12332507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182349665	chr18:12332511-12332512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565473799	chr18:12332513-12332514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535922587	chr18:12332517-12332518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554316488	chr18:12332548-12332549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201827561	chr18:12332603-12332604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575981394	chr18:12332681-12332682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201207859	chr18:12332683-12332684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149958684	chr18:12332696-12332697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72873482	chr18:12332744-12332745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111950845	chr18:12332753-12332754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577133356	chr18:12332800-12332801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143058415	chr18:12332835-12332836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111439987	chr18:12332836-12332837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140642621	chr18:12332842-12332843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71172073	chr18:12332853-12332854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200125338	chr18:12332854-12332855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs80071493	chr18:12332865-12332866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs79465390	chr18:12332866-12332867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
21	rs373136860	chr18:12332903-12332904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13381430	chr18:12332925-12332926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67622835	chr18:12332939-12332940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377242840	chr18:12332944-12332945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370533862	chr18:12332957-12332958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200928693	chr18:12332962-12332963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77997183	chr18:12332968-12332969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs193004924	chr18:12332974-12332975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74616513	chr18:12332975-12332976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377201173	chr18:12332997-12332998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62095704	chr18:12333012-12333013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374547027	chr18:12333045-12333046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377431811	chr18:12333052-12333053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62636869	chr18:12333053-12333054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376226006	chr18:12333054-12333055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62636870	chr18:12333055-12333056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185126141	chr18:12333058-12333059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56261154	chr18:12333068-12333069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145799086	chr18:12333076-12333077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56289204	chr18:12333079-12333080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534929237	chr18:12333094-12333095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577723517	chr18:12333124-12333125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576244677	chr18:12333127-12333128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs36194543	chr18:12333164-12333165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs398059052	chr18:12333170-12333171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190370252	chr18:12333178-12333179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533108180	chr18:12333193-12333194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193054275	chr18:12333213-12333214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549626023	chr18:12333226-12333227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184592280	chr18:12333236-12333237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
4	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
5	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12319000-12333800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
9	chr18:12323000-12332400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:12324800-12337000	Strong transcription	Liver	Liver
12	chr18:12324800-12338800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr18:12324800-12339400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:12325200-12335800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:12326000-12343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:12326400-12332400	Strong transcription	Fetal Intestine Large	intestine
18	chr18:12326800-12333600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:12326800-12334400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12327000-12333800	Weak transcription	Aorta	Aorta
21	chr18:12327400-12333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:12327800-12334000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:12328000-12333600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:12328000-12333800	Weak transcription	Brain Substantia Nigra	brain
25	chr18:12328000-12335400	Weak transcription	Psoas Muscle	Psoas
26	chr18:12328000-12335600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr18:12328200-12332600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:12328200-12333600	Weak transcription	Spleen	Spleen
29	chr18:12328200-12333600	Weak transcription	A549	lung
30	chr18:12328400-12334600	Weak transcription	Stomach Mucosa	stomach
31	chr18:12328800-12333600	Weak transcription	Fetal Heart	heart
32	chr18:12328800-12333800	Weak transcription	Esophagus	oesophagus
33	chr18:12328800-12333800	Weak transcription	HSMMtube	muscle
34	chr18:12329200-12333600	Weak transcription	Fetal Kidney	kidney
35	chr18:12329600-12333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12329600-12333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:12329600-12333400	Weak transcription	Pancreas	Pancrea
38	chr18:12329600-12333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:12329600-12333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:12329600-12333600	Weak transcription	Brain Angular Gyrus	brain
41	chr18:12329600-12333600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:12329600-12333600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:12329600-12336800	Weak transcription	NHDF-Ad	bronchial
44	chr18:12329800-12333600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr18:12329800-12333600	Weak transcription	Placenta	Placenta
46	chr18:12329800-12333600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:12329800-12333800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr18:12329800-12333800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:12329800-12333800	Weak transcription	Fetal Brain Female	brain
50	chr18:12329800-12334000	Weak transcription	Primary B cells from peripheral blood	blood

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