Variant report

Variant	nsv1012123
Chromosome Location	chr2:149078500-149151358
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:149130660..149131621-chr21:9826960..9827638,2	MCF-7	breast:
2	chr2:149075837..149077502-chr2:149078187..149080957,2	K562	blood:
3	chr2:149134166..149136482-chr2:149845391..149847794,2	MCF-7	breast:
4	chr2:149098190..149099193-chr8:103870990..103871561,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074872
2	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074871
3	lnc-MBD5-1	chr2:149099783-149099905	NONHSAT074878

No data

Extended variants
information (count: 2671 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2671 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193190805	chr2:149078556-149078557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548365874	chr2:149078713-149078714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184726153	chr2:149078774-149078775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77795002	chr2:149078777-149078778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188462880	chr2:149078878-149078879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79111211	chr2:149078888-149078889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62182833	chr2:149078890-149078891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12473137	chr2:149078924-149078925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531585498	chr2:149079004-149079005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10172107	chr2:149079028-149079029	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568451230	chr2:149079044-149079045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535647447	chr2:149079146-149079147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372518273	chr2:149079217-149079218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553960714	chr2:149079241-149079242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140414289	chr2:149079251-149079252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10172459	chr2:149079304-149079305	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4563168	chr2:149079346-149079347	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192707100	chr2:149079390-149079391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557627133	chr2:149079422-149079423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572701188	chr2:149079438-149079439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386651516	chr2:149079445-149079446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2656317	chr2:149079447-149079448	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183480427	chr2:149079473-149079474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144259205	chr2:149079490-149079491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188210529	chr2:149079525-149079526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559915194	chr2:149079532-149079533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546123098	chr2:149079600-149079601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181787635	chr2:149079625-149079626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564621132	chr2:149079626-149079627	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147936319	chr2:149079629-149079630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367782536	chr2:149079661-149079662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574625464	chr2:149079662-149079663	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11677584	chr2:149079674-149079675	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184798551	chr2:149079747-149079748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189923534	chr2:149079749-149079750	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565914364	chr2:149079754-149079755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539618667	chr2:149079766-149079767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111413722	chr2:149079770-149079771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140049118	chr2:149079814-149079815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569845676	chr2:149079816-149079817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553891702	chr2:149079828-149079829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527256023	chr2:149079846-149079847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563718546	chr2:149079848-149079849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576937709	chr2:149079851-149079852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116422216	chr2:149079923-149079924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573702436	chr2:149079928-149079929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540692549	chr2:149079952-149079953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552634777	chr2:149079959-149079960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572333434	chr2:149079968-149079969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531073580	chr2:149080019-149080020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
3	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:149063400-149080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:149067200-149095800	Weak transcription	HSMM	muscle
7	chr2:149069200-149096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:149069400-149096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
11	chr2:149071400-149100400	Weak transcription	Ovary	ovary
12	chr2:149071600-149078600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:149071600-149094000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:149071800-149095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:149071800-149100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:149075600-149093600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:149079000-149079800	Strong transcription	Left Ventricle	heart
18	chr2:149079600-149079800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:149079800-149093600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:149079800-149094000	Weak transcription	Left Ventricle	heart
21	chr2:149085400-149100400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:149086400-149099600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:149086400-149099800	Weak transcription	GM12878-XiMat	blood
24	chr2:149086600-149086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:149086600-149093600	Weak transcription	Primary B cells from cord blood	blood
26	chr2:149086800-149094000	Weak transcription	Dnd41	blood
27	chr2:149086800-149098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:149086800-149100400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:149088400-149100400	Weak transcription	Fetal Kidney	kidney
30	chr2:149088600-149088800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:149088800-149096200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:149089000-149094000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
34	chr2:149089600-149100400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:149089600-149105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:149089800-149096000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:149090000-149104200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:149090400-149094000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:149090400-149094000	Weak transcription	Fetal Stomach	stomach
40	chr2:149090400-149100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:149090400-149100400	Weak transcription	Brain Anterior Caudate	brain
42	chr2:149090600-149096200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:149090600-149100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:149091000-149100000	Weak transcription	Pancreas	Pancrea
45	chr2:149091800-149094400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:149092000-149093800	Weak transcription	Fetal Lung	lung
47	chr2:149092200-149094000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:149092400-149094000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:149092400-149094000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:149092400-149095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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