Variant report

Variant	nsv819744
Chromosome Location	chr18:12351281-12354053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12352023-12352247	GM12891	blood:	n/a	n/a
2	POLR2A	chr18:12353765-12354691	GM12892	blood:	n/a	n/a
3	POLR2A	chr18:12351983-12352422	K562	blood:	n/a	n/a
4	POLR2A	chr18:12353717-12354848	GM12892	blood:	n/a	n/a
5	POLR2A	chr18:12352000-12352281	K562	blood:	n/a	n/a
6	POLR2A	chr18:12351358-12351469	K562	blood:	n/a	n/a
7	POLR2A	chr18:12353827-12354824	K562	blood:	n/a	n/a
8	POLR2A	chr18:12351928-12352437	GM12892	blood:	n/a	n/a
9	POLR2A	chr18:12353618-12353685	K562	blood:	n/a	n/a
10	POLR2A	chr18:12353108-12353233	K562	blood:	n/a	n/a
11	POLR2A	chr18:12352798-12352976	HepG2	liver:	n/a	n/a
12	POLR2A	chr18:12352451-12352669	HepG2	liver:	n/a	n/a
13	POLR2A	chr18:12353905-12354486	K562	blood:	n/a	n/a
14	POLR2A	chr18:12353762-12354787	GM12892	blood:	n/a	n/a
15	POLR2A	chr18:12352011-12352321	GM12878	blood:	n/a	n/a
16	POLR2A	chr18:12353843-12354777	GM12891	blood:	n/a	n/a
17	POLR2A	chr18:12353906-12354564	HL-60	blood:	n/a	n/a
18	POLR2A	chr18:12352111-12352273	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr18:12353767-12354709	HepG2	liver:	n/a	n/a
20	POLR2A	chr18:12353725-12354853	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12352685..12355355-chr18:12373125..12375280,2	MCF-7	breast:

Variant related genes	Relation type
AFG3L2	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562127649	chr18:12351283-12351284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529264477	chr18:12351288-12351289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377339236	chr18:12351296-12351297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538927944	chr18:12351324-12351325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547346676	chr18:12351333-12351334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375098002	chr18:12351334-12351335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11080572	chr18:12351342-12351343	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs370562426	chr18:12351348-12351349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374874087	chr18:12351378-12351379	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs368011609	chr18:12351389-12351390	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182327153	chr18:12351419-12351420	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186981770	chr18:12351452-12351453	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373885372	chr18:12351456-12351457	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs118126456	chr18:12351463-12351464	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538784507	chr18:12351470-12351471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574474685	chr18:12351471-12351472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556525644	chr18:12351488-12351489	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577933723	chr18:12351506-12351507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374841345	chr18:12351546-12351547	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12961126	chr18:12351547-12351548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12960286	chr18:12351548-12351549	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143902541	chr18:12351552-12351553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34791958	chr18:12351562-12351563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560445304	chr18:12351606-12351607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557448488	chr18:12351607-12351608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572380875	chr18:12351634-12351635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191929258	chr18:12351671-12351672	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7505821	chr18:12351676-12351677	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377608960	chr18:12351689-12351690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531443188	chr18:12351691-12351692	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140558929	chr18:12351734-12351735	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531260413	chr18:12351754-12351755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532046412	chr18:12351766-12351767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547394473	chr18:12351774-12351775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566027880	chr18:12351780-12351781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375303854	chr18:12351796-12351797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549378317	chr18:12351797-12351798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200992735	chr18:12351855-12351856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536541506	chr18:12351867-12351868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548415980	chr18:12351938-12351939	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs185255918	chr18:12351940-12351941	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs538360563	chr18:12351971-12351972	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556351986	chr18:12352001-12352002	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150465163	chr18:12352058-12352059	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs190131743	chr18:12352067-12352068	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553745039	chr18:12352094-12352095	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572443347	chr18:12352184-12352185	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542870754	chr18:12352192-12352193	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138271037	chr18:12352211-12352212	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576531754	chr18:12352257-12352258	Strong transcription Weak transcription	TF binding 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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12333200-12362200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:12333400-12366600	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
7	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
8	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
9	chr18:12333600-12356800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12333600-12358200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:12333600-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:12333600-12362600	Strong transcription	Adipose Nuclei	Adipose
13	chr18:12333600-12364000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:12333600-12366400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr18:12333600-12369600	Strong transcription	Placenta	Placenta
16	chr18:12333600-12369800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr18:12333800-12353200	Strong transcription	Fetal Brain Female	brain
18	chr18:12333800-12357000	Strong transcription	Brain Anterior Caudate	brain
19	chr18:12333800-12360200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:12333800-12369400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr18:12334000-12369400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr18:12335600-12362600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:12337000-12367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:12337200-12359800	Strong transcription	Fetal Intestine Large	intestine
26	chr18:12337200-12369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:12337400-12354200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12337400-12369800	Strong transcription	Liver	Liver
29	chr18:12337400-12370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:12337800-12357000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:12337800-12360200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr18:12337800-12360600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr18:12337800-12369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:12337800-12370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:12338600-12359600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:12339200-12368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:12339800-12354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:12339800-12359600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:12339800-12362000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr18:12339800-12370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:12339800-12371400	Strong transcription	Dnd41	blood
42	chr18:12340000-12353400	Strong transcription	HSMM	muscle
43	chr18:12340000-12357000	Strong transcription	Colon Smooth Muscle	Colon
44	chr18:12340000-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:12340000-12362000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:12340000-12365000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:12340000-12369400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:12340000-12369400	Strong transcription	HepG2	liver
49	chr18:12340000-12369600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:12340000-12370800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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