Variant report

Variant	esv2830258
Chromosome Location	chr2:153318339-153349165
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
2	chr2:153046496..153047091-chr2:153322438..153323156,3	MCF-7	breast:
3	chr2:153190311..153192513-chr2:153322864..153325186,2	MCF-7	breast:
4	chr2:153030200..153033527-chr2:153319932..153322243,3	MCF-7	breast:
5	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
6	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
7	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
8	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
9	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
10	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
11	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
12	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:
13	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
14	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
15	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:
16	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
17	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
18	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
19	chr2:153328146..153330092-chr2:153417447..153419357,2	K562	blood:
20	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
21	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115145	chromatin interactions
ENSG00000157827	chromatin interactions

Extended variants
information (count: 1056 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12623070	chr2:153318339-153318340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144581028	chr2:153318351-153318352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575048788	chr2:153318359-153318360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529086532	chr2:153318384-153318385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540827075	chr2:153318400-153318401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138003895	chr2:153318406-153318407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200722116	chr2:153318414-153318415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78938525	chr2:153318438-153318439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190471057	chr2:153318456-153318457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376341064	chr2:153318457-153318458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562588730	chr2:153318474-153318475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13412508	chr2:153318541-153318542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116384143	chr2:153318578-153318579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183009347	chr2:153318581-153318582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187651869	chr2:153318588-153318589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529821996	chr2:153318629-153318630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2078444	chr2:153318630-153318631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192375869	chr2:153318633-153318634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140955086	chr2:153318641-153318642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566528732	chr2:153318682-153318683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568914155	chr2:153318778-153318779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148771758	chr2:153318779-153318780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537851492	chr2:153318781-153318782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555257345	chr2:153318782-153318783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575101661	chr2:153318783-153318784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534113415	chr2:153318793-153318794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554370324	chr2:153318813-153318814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533673627	chr2:153318855-153318856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185739914	chr2:153318898-153318899	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201912064	chr2:153318909-153318910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577261853	chr2:153318931-153318932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555530787	chr2:153318961-153318962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568656777	chr2:153318968-153318969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187450871	chr2:153318990-153318991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376679453	chr2:153319067-153319068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116165896	chr2:153319086-153319087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575980347	chr2:153319103-153319104	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557638281	chr2:153319104-153319105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192719723	chr2:153319173-153319174	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560815448	chr2:153319175-153319176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530038138	chr2:153319190-153319191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575855001	chr2:153319191-153319192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546456921	chr2:153319198-153319199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75012620	chr2:153319205-153319206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560342715	chr2:153319210-153319211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532101219	chr2:153319217-153319218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552262861	chr2:153319221-153319222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568979586	chr2:153319384-153319385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374479173	chr2:153319423-153319424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567858026	chr2:153319464-153319465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
2	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
3	chr2:153303400-153322600	Weak transcription	NHLF	lung
4	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
7	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
10	chr2:153310400-153318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:153311600-153318600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:153311800-153321600	Weak transcription	Lung	lung
13	chr2:153312000-153318800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:153312000-153320400	Weak transcription	Fetal Brain Male	brain
15	chr2:153312000-153321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:153313000-153320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:153313000-153321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:153313000-153321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:153313000-153322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:153313200-153318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:153313200-153321200	Weak transcription	A549	lung
22	chr2:153313200-153321600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:153313400-153321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153313400-153321400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:153313800-153319000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:153313800-153321000	Weak transcription	NHEK	skin
27	chr2:153314800-153321000	Enhancers	Brain Anterior Caudate	brain
28	chr2:153315000-153318400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:153315000-153318400	Weak transcription	HepG2	liver
30	chr2:153315200-153321200	Weak transcription	Placenta	Placenta
31	chr2:153315600-153319000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153316000-153319000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:153316200-153318400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:153316200-153319000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:153316400-153318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:153317200-153318600	Enhancers	Brain Hippocampus Middle	brain
37	chr2:153317200-153318600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:153317400-153318600	Weak transcription	Ovary	ovary
39	chr2:153317400-153321400	Weak transcription	Aorta	Aorta
40	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
41	chr2:153318000-153321000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:153318400-153319200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:153318400-153319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:153318400-153319400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:153318400-153319600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:153318400-153320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:153318400-153327200	Enhancers	HepG2	liver
48	chr2:153318600-153319600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:153318600-153319600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:153318600-153320000	Flanking Active TSS	Brain Hippocampus Middle	brain

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