Variant report

Variant	esv33130
Chromosome Location	chr18:12711423-12715465
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12700615..12704798-chr18:12705051..12713643,12	MCF-7	breast:
2	chr18:12707453..12709130-chr18:12712396..12714516,2	MCF-7	breast:
3	chr18:12691365..12694682-chr18:12712502..12715865,4	K562	blood:
4	chr18:12701854..12703745-chr18:12712818..12714338,2	MCF-7	breast:
5	chr18:12710368..12712792-chr18:12946299..12947830,2	K562	blood:
6	chr18:12701192..12707641-chr18:12709846..12713056,10	K562	blood:
7	chr18:12700926..12704807-chr18:12708679..12712222,6	K562	blood:
8	chr18:12712618..12714597-chr18:12880301..12882265,2	K562	blood:
9	chr18:12684189..12686114-chr18:12711394..12713942,2	K562	blood:
10	chr18:12702645..12704568-chr18:12712543..12715452,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128789	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000085415	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188029994	chr18:12711428-12711429	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369019164	chr18:12711460-12711461	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs533613069	chr18:12711527-12711528	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs149921204	chr18:12711561-12711562	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145259559	chr18:12711582-12711583	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192569067	chr18:12711621-12711622	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs182169434	chr18:12711666-12711667	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564059198	chr18:12711733-12711734	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs75047770	chr18:12711749-12711750	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34631690	chr18:12711750-12711751	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs187608763	chr18:12711813-12711814	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149171796	chr18:12711814-12711815	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs192891723	chr18:12711816-12711817	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184959961	chr18:12711856-12711857	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143676991	chr18:12711901-12711902	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs546716488	chr18:12711930-12711931	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561843778	chr18:12711956-12711957	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188572579	chr18:12711981-12711982	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550327505	chr18:12711989-12711990	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11080592	chr18:12712002-12712003	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539309708	chr18:12712021-12712022	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551664043	chr18:12712039-12712040	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs192226018	chr18:12712085-12712086	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376818529	chr18:12712104-12712105	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs9955985	chr18:12712112-12712113	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555433000	chr18:12712116-12712117	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs573767535	chr18:12712173-12712174	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114337643	chr18:12712276-12712277	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557558570	chr18:12712321-12712322	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35775417	chr18:12712329-12712330	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113703636	chr18:12712330-12712331	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543861571	chr18:12712331-12712332	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575796294	chr18:12712472-12712473	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140510610	chr18:12712479-12712480	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs565056941	chr18:12712497-12712498	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573503933	chr18:12712545-12712546	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540211428	chr18:12712554-12712555	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs547056596	chr18:12712562-12712563	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs562752340	chr18:12712607-12712608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs374853943	chr18:12712653-12712654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs368131965	chr18:12712656-12712657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370600689	chr18:12712660-12712661	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs561780151	chr18:12712664-12712665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375777772	chr18:12712673-12712674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs146335831	chr18:12712708-12712709	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs139611150	chr18:12712716-12712717	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144450904	chr18:12712718-12712719	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550663514	chr18:12712727-12712728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562303742	chr18:12712733-12712734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533142498	chr18:12712757-12712758	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 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	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12703800-12713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:12704200-12713000	Weak transcription	Aorta	Aorta
3	chr18:12704200-12713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:12704200-12713200	Weak transcription	Psoas Muscle	Psoas
5	chr18:12704200-12726800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12704600-12713000	Weak transcription	Pancreas	Pancrea
7	chr18:12704800-12727200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12704800-12727800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:12705000-12722400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12705000-12725200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:12705000-12728600	Weak transcription	Stomach Mucosa	stomach
12	chr18:12705400-12714600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12705400-12726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr18:12705400-12727200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12705600-12711800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr18:12705600-12726000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:12705600-12727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:12705600-12727200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr18:12705600-12727200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr18:12705600-12727200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:12705800-12712600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:12705800-12713200	Weak transcription	Fetal Brain Male	brain
23	chr18:12705800-12714800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:12705800-12726600	Strong transcription	Fetal Thymus	thymus
25	chr18:12705800-12727000	Strong transcription	Placenta	Placenta
26	chr18:12705800-12727200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr18:12705800-12727200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:12705800-12727200	Strong transcription	Fetal Muscle Leg	muscle
29	chr18:12706000-12714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:12706000-12727000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr18:12706000-12727200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:12706200-12716000	Strong transcription	Fetal Lung	lung
33	chr18:12706200-12726000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:12706200-12726800	Strong transcription	Fetal Intestine Large	intestine
35	chr18:12706200-12727200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:12706200-12727200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:12706400-12712600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:12706400-12726600	Strong transcription	Liver	Liver
39	chr18:12706400-12727000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr18:12706400-12727000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr18:12706400-12727200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:12706600-12712000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:12706600-12719200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr18:12706600-12727200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr18:12706600-12727200	Strong transcription	Adipose Nuclei	Adipose
46	chr18:12706800-12723600	Strong transcription	Fetal Intestine Small	intestine
47	chr18:12706800-12727000	Strong transcription	Dnd41	blood
48	chr18:12707000-12717600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr18:12707200-12711600	Strong transcription	HUVEC	blood vessel
50	chr18:12707200-12716200	Strong transcription	Primary B cells from peripheral blood	blood

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