Variant report

Variant	nsv438374
Chromosome Location	chr2:152322095-152331418
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:0)
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	chr2:152107619..152109429-chr2:152322968..152325434,2	K562	blood:
2	chr2:152329723..152332173-chr2:152332317..152334542,2	K562	blood:
3	chr2:152322769..152325475-chr2:152328124..152330631,2	K562	blood:
4	chr2:152320561..152322132-chr2:152322755..152325305,2	MCF-7	breast:
5	chr2:152117786..152119575-chr2:152331132..152333379,2	MCF-7	breast:
6	chr2:152319808..152322653-chr2:152331004..152333072,2	K562	blood:
7	chr2:152322769..152325475-chr2:152328124..152330631,2	K562	blood:
8	chr2:152329635..152332984-chr2:152337072..152339089,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000080345	chromatin interactions
ENSG00000184898	chromatin interactions

Extended variants
information (count: 389 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2444257	chr2:152322095-152322096	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555385962	chr2:152322097-152322098	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572034635	chr2:152322113-152322114	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189342229	chr2:152322115-152322116	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200973717	chr2:152322122-152322123	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199498247	chr2:152322126-152322127	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139910339	chr2:152322139-152322140	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200802221	chr2:152322157-152322158	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148595383	chr2:152322164-152322165	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372617764	chr2:152322170-152322171	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373924448	chr2:152322233-152322234	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139841854	chr2:152322236-152322237	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377520642	chr2:152322270-152322271	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61748235	chr2:152322277-152322278	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151186812	chr2:152322278-152322279	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373604071	chr2:152322300-152322301	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140321267	chr2:152322310-152322311	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376647063	chr2:152322321-152322322	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145076005	chr2:152322337-152322338	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371505736	chr2:152322340-152322341	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147035124	chr2:152322395-152322396	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146577181	chr2:152322409-152322410	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543653550	chr2:152322438-152322439	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141514789	chr2:152322443-152322444	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150889412	chr2:152322445-152322446	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574318270	chr2:152322457-152322458	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199895054	chr2:152322463-152322464	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16830057	chr2:152322528-152322529	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376467202	chr2:152322673-152322674	Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529548281	chr2:152322699-152322700	Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543274488	chr2:152322724-152322725	Strong transcription Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559642559	chr2:152322764-152322765	Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528422621	chr2:152322787-152322788	Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553711520	chr2:152322836-152322837	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370927602	chr2:152322863-152322864	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149794128	chr2:152322865-152322866	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571398362	chr2:152322875-152322876	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531080540	chr2:152322879-152322880	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116294835	chr2:152322902-152322903	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533345328	chr2:152323007-152323008	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545148668	chr2:152323029-152323030	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569867463	chr2:152323040-152323041	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535303513	chr2:152323061-152323062	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201120384	chr2:152323062-152323063	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs16830059	chr2:152323086-152323087	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565981811	chr2:152323101-152323102	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144754504	chr2:152323150-152323151	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567235252	chr2:152323221-152323222	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371718402	chr2:152323239-152323240	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557836430	chr2:152323242-152323243	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
3	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
7	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:152268600-152326800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:152268600-152327800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:152268600-152334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:152268600-152342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:152268800-152326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:152268800-152327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:152268800-152327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:152269400-152327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:152272400-152327800	Strong transcription	Dnd41	blood
17	chr2:152283800-152334000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:152284200-152327000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:152284600-152327800	Strong transcription	HepG2	liver
20	chr2:152285000-152327800	Strong transcription	Placenta	Placenta
21	chr2:152285200-152327600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:152285200-152327800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:152285200-152331200	Strong transcription	Adipose Nuclei	Adipose
24	chr2:152290600-152323400	Weak transcription	Aorta	Aorta
25	chr2:152294600-152327800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:152294800-152327800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:152295800-152348400	Weak transcription	Right Ventricle	heart
28	chr2:152298600-152327600	Strong transcription	HUVEC	blood vessel
29	chr2:152300000-152333400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:152300200-152327800	Strong transcription	K562	blood
31	chr2:152301600-152324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:152301800-152343800	Weak transcription	Gastric	stomach
33	chr2:152303200-152325000	Weak transcription	Small Intestine	intestine
34	chr2:152303400-152326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:152304800-152322800	Strong transcription	Osteobl	bone
36	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
37	chr2:152306200-152322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:152306400-152324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:152306800-152328400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:152307000-152328000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:152307600-152327600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:152307600-152327800	Strong transcription	HSMM	muscle
43	chr2:152307600-152328000	Strong transcription	Liver	Liver
44	chr2:152309000-152327800	Strong transcription	Fetal Intestine Large	intestine
45	chr2:152311800-152323600	Strong transcription	Fetal Kidney	kidney
46	chr2:152312000-152327600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:152314000-152324200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:152314000-152344000	Weak transcription	Esophagus	oesophagus
49	chr2:152314000-152349400	Weak transcription	Pancreas	Pancrea
50	chr2:152314400-152322600	Weak transcription	Brain Cingulate Gyrus	brain

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