Variant report

Variant	esv3363204
Chromosome Location	chr2:190636054-190636441
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
2	chr2:190634478..190636645-chr2:190640772..190642999,2	K562	blood:
3	chr2:190634845..190637488-chr2:190645702..190648175,2	K562	blood:
4	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
5	chr2:190626018..190630546-chr2:190631744..190636793,10	K562	blood:
6	chr2:190634789..190636320-chr2:190648047..190649597,2	MCF-7	breast:
7	chr2:190634458..190636965-chr2:190638954..190642659,3	MCF-7	breast:
8	chr2:190631241..190636295-chr2:190636583..190640272,4	K562	blood:
9	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC013468.1-1	chr2:190636037-190636628	NONHSAT076069

No data

Variant related genes	Relation type
ENSG00000253559	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000273240	chromatin interactions
ENSG00000128694	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545651329	chr2:190636083-190636084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs375768596	chr2:190636102-190636103	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs113677584	chr2:190636133-190636134	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs564322309	chr2:190636172-190636173	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs191286849	chr2:190636253-190636254	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs546877347	chr2:190636257-190636258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs371898975	chr2:190636351-190636352	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs567716083	chr2:190636357-190636358	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs115560698	chr2:190636407-190636408	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs6942	chr2:190636411-190636412	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs568642716	chr2:190636417-190636418	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs539543944	chr2:190636436-190636437	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
5	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
7	chr2:190628200-190642800	Weak transcription	Lung	lung
8	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
9	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
10	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:190628600-190636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
17	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
18	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
23	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
26	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
27	chr2:190628800-190636200	Weak transcription	Psoas Muscle	Psoas
28	chr2:190628800-190638000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:190628800-190638600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:190628800-190638800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:190628800-190639200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:190628800-190642800	Weak transcription	Fetal Stomach	stomach
33	chr2:190629000-190638000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:190629000-190638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:190629000-190644200	Weak transcription	Fetal Brain Male	brain
36	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:190629200-190636200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:190629200-190638000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:190629200-190639400	Weak transcription	Hela-S3	cervix
40	chr2:190629400-190637800	Weak transcription	NHLF	lung
41	chr2:190629800-190647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:190630000-190646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:190630800-190647000	Strong transcription	HSMM	muscle
44	chr2:190631000-190637000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:190631000-190646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:190631200-190645400	Strong transcription	Liver	Liver
47	chr2:190631200-190646200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:190631200-190647200	Strong transcription	Fetal Thymus	thymus
49	chr2:190631400-190642200	Strong transcription	NHDF-Ad	bronchial
50	chr2:190631400-190644000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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