Variant report

Variant	esv3426441
Chromosome Location	chr2:152351900-152352735
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	JUND	chr2:152352179-152352261	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:152352432-152352585	K562	blood:	n/a	n/a
3	POLR2A	chr2:152352192-152352269	GM12878	blood:	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: 38 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202073021	chr2:152351958-152351959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200532658	chr2:152351961-152351962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184172192	chr2:152351965-152351966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3832166	chr2:152351974-152351975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201923569	chr2:152351976-152351977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575092904	chr2:152351985-152351986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540891759	chr2:152351986-152351987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186742391	chr2:152351993-152351994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532535946	chr2:152352001-152352002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552318393	chr2:152352049-152352050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562985649	chr2:152352111-152352112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531681895	chr2:152352131-152352132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566977223	chr2:152352166-152352167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548279259	chr2:152352171-152352172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562061208	chr2:152352180-152352181	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35696429	chr2:152352195-152352196	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139812390	chr2:152352206-152352207	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73005916	chr2:152352207-152352208	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113277889	chr2:152352252-152352253	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201456787	chr2:152352255-152352256	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs373758264	chr2:152352259-152352260	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372470491	chr2:152352261-152352262	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546484256	chr2:152352296-152352297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566679460	chr2:152352314-152352315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567310102	chr2:152352338-152352339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191479433	chr2:152352404-152352405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75797633	chr2:152352419-152352420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368021241	chr2:152352438-152352439	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78895794	chr2:152352462-152352463	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148589314	chr2:152352464-152352465	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182563044	chr2:152352466-152352467	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187180051	chr2:152352512-152352513	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540875810	chr2:152352556-152352557	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566554370	chr2:152352580-152352581	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373594030	chr2:152352583-152352584	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs16830106	chr2:152352590-152352591	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114687041	chr2:152352658-152352659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193025560	chr2:152352709-152352710	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:51 , 50 per page) page: 1 2

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	chr2:152342600-152352600	Weak transcription	Lung	lung
20	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
22	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
23	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:152343400-152355000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:152343400-152366800	Weak transcription	Dnd41	blood
26	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:152345000-152352800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:152347200-152362800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:152348000-152364400	Weak transcription	Fetal Stomach	stomach
35	chr2:152348600-152369600	Weak transcription	K562	blood
36	chr2:152348800-152366200	Weak transcription	Primary T cells from cord blood	blood
37	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:152349000-152354800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:152349200-152354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:152349400-152370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:152350000-152354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:152350000-152358600	Weak transcription	HSMM	muscle
43	chr2:152350000-152362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:152350000-152366200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:152350600-152354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:152350600-152354200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:152350800-152354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:152351000-152352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:152351000-152354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:152352400-152352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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