Variant report

Variant	esv3362000
Chromosome Location	chr2:152352857-152353579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:152352989-152353122	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152351759..152353707-chr2:152360537..152362140,2	K562	blood:

Variant related genes	Relation type
NEB	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554046143	chr2:152352862-152352863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368955312	chr2:152352916-152352917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546422983	chr2:152352954-152352955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566673738	chr2:152352988-152352989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375807681	chr2:152353006-152353007	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532278571	chr2:152353027-152353028	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552448949	chr2:152353078-152353079	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185128155	chr2:152353086-152353087	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190418561	chr2:152353093-152353094	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs193058425	chr2:152353121-152353122	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73005917	chr2:152353150-152353151	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534378316	chr2:152353202-152353203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554040025	chr2:152353217-152353218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577370516	chr2:152353226-152353227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373115276	chr2:152353237-152353238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115826291	chr2:152353294-152353295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184819403	chr2:152353319-152353320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77732019	chr2:152353328-152353329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576352358	chr2:152353332-152353333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140954520	chr2:152353376-152353377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10497081	chr2:152353395-152353396	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs527744844	chr2:152353455-152353456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541150975	chr2:152353498-152353499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560043429	chr2:152353577-152353578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
3	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
5	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
8	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:152340600-152364600	Weak transcription	HepG2	liver
13	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:152341600-152353400	Weak transcription	NHEK	skin
15	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
16	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:152342200-152355000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:152342400-152353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
21	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
22	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:152343400-152355000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:152343400-152366800	Weak transcription	Dnd41	blood
25	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:152347200-152362800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:152348000-152364400	Weak transcription	Fetal Stomach	stomach
33	chr2:152348600-152369600	Weak transcription	K562	blood
34	chr2:152348800-152366200	Weak transcription	Primary T cells from cord blood	blood
35	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:152349000-152354800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:152349200-152354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:152349400-152370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:152350000-152354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:152350000-152358600	Weak transcription	HSMM	muscle
41	chr2:152350000-152362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:152350000-152366200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:152350600-152354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:152350600-152354200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:152350800-152354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:152351000-152354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:152352600-152353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:152352800-152359800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:152353000-152353200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:152353200-152367600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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