Variant report

Variant	nsv535926
Chromosome Location	chr2:133734955-133817962
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:4)
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	chr2:133737097..133739714-chr2:133742077..133743742,2	MCF-7	breast:
2	chr2:133795860..133798019-chr2:133803076..133805297,2	MCF-7	breast:
3	chr2:133811077..133813218-chr2:133838444..133841047,2	MCF-7	breast:
4	chr2:133737230..133740275-chr2:133741296..133743711,3	K562	blood:
5	chr2:133737097..133739714-chr2:133742077..133743742,2	MCF-7	breast:
6	chr2:133737230..133740275-chr2:133741296..133743711,3	K562	blood:
7	chr2:133427399..133430167-chr2:133804238..133806785,2	MCF-7	breast:
8	chr2:133795860..133798019-chr2:133803076..133805297,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-12	chr2:133740284-133740478	ucscGeneNc_uc002ttu_1
2	lnc-GPR39-12	chr2:133742398-133742484	ucscGeneNc_uc002ttu_1
3	lnc-GPR39-12	chr2:133741315-133741466	ucscGeneNc_uc002ttu_1
4	lnc-GPR39-12	chr2:133742958-133743083	ucscGeneNc_uc002ttu_1

No data

Variant related genes	Relation type
ENSG00000150551	chromatin interactions

Extended variants
information (count: 3121 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536999772	chr2:133734991-133734992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569348161	chr2:133735037-133735038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544065664	chr2:133735041-133735042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554462242	chr2:133735056-133735057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35916466	chr2:133735073-133735074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143459490	chr2:133735074-133735075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566137039	chr2:133735119-133735120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183330764	chr2:133735166-133735167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7589684	chr2:133735222-133735223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555188573	chr2:133735269-133735270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540085554	chr2:133735300-133735301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35634115	chr2:133735331-133735332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573712877	chr2:133735340-133735341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537520369	chr2:133735363-133735364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560624892	chr2:133735368-133735369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556367845	chr2:133735394-133735395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199849613	chr2:133735402-133735403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151027671	chr2:133735403-133735404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577900575	chr2:133735428-133735429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372671296	chr2:133735440-133735441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376902890	chr2:133735445-133735446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147980565	chr2:133735446-133735447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141597349	chr2:133735481-133735482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550540636	chr2:133735536-133735537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573295711	chr2:133735542-133735543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188835779	chr2:133735592-133735593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115311343	chr2:133735604-133735605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370554889	chr2:133735626-133735627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193078096	chr2:133735671-133735672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529436633	chr2:133735698-133735699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113964152	chr2:133735708-133735709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577313034	chr2:133735733-133735734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546281300	chr2:133735839-133735840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568957753	chr2:133735864-133735865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562754184	chr2:133735935-133735936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138453122	chr2:133735961-133735962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185515488	chr2:133735976-133735977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370073938	chr2:133735999-133736000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142977402	chr2:133736000-133736001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72614500	chr2:133736034-133736035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548989656	chr2:133736075-133736076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147020786	chr2:133736132-133736133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567144732	chr2:133736146-133736147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187853055	chr2:133736169-133736170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191154916	chr2:133736176-133736177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577914977	chr2:133736200-133736201	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113658876	chr2:133736201-133736202	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554123592	chr2:133736245-133736246	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146111266	chr2:133736252-133736253	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558585746	chr2:133736258-133736259	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133714600-133735400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133730000-133735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:133732400-133735600	Weak transcription	NH-A	brain
4	chr2:133732600-133735600	Weak transcription	NHEK	skin
5	chr2:133733000-133735800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:133733600-133735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133734000-133736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:133734000-133736200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:133734200-133737000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:133734800-133735000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:133734800-133737200	Enhancers	Brain Anterior Caudate	brain
12	chr2:133734800-133737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:133735000-133735600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:133735200-133736000	Enhancers	HUVEC	blood vessel
15	chr2:133735200-133736200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:133735200-133736600	Enhancers	Brain Angular Gyrus	brain
17	chr2:133735200-133737400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:133735200-133737600	Enhancers	Brain Substantia Nigra	brain
19	chr2:133735400-133736200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:133735400-133736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:133735400-133736200	Enhancers	NHDF-Ad	bronchial
22	chr2:133735400-133736200	Enhancers	NHLF	lung
23	chr2:133735400-133736400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:133735400-133736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:133735400-133737400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:133735600-133736000	Enhancers	NH-A	brain
27	chr2:133735600-133736000	Enhancers	NHEK	skin
28	chr2:133735600-133736600	Enhancers	HMEC	breast
29	chr2:133735600-133737200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:133735800-133736200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:133735800-133736600	Enhancers	Esophagus	oesophagus
32	chr2:133735800-133736800	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:133735800-133737600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:133736000-133737200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:133736000-133737200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:133736000-133737200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:133736200-133736600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:133736200-133737400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133736400-133743800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:133736400-133749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:133736600-133738800	Weak transcription	Esophagus	oesophagus
42	chr2:133736600-133739000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:133736600-133748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:133736800-133737200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:133737000-133739200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:133737200-133737400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:133737200-133738800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:133737200-133738800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:133737200-133738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:133737400-133738600	Weak transcription	Brain Cingulate Gyrus	brain

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