Variant report

Variant	esv3412530
Chromosome Location	chr5:177973571-177976119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:31203803..31206340-chr5:177974675..177976195,2	K562	blood:
2	chr5:177974829..177978775-chr5:177979610..177982986,3	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538359602	chr5:177973583-177973584	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs556816483	chr5:177973584-177973585	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs372812065	chr5:177973597-177973598	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs575278599	chr5:177973604-177973605	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535917783	chr5:177973610-177973611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs114456256	chr5:177973662-177973663	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs573063635	chr5:177973679-177973680	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs540486919	chr5:177973704-177973705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs565099465	chr5:177973752-177973753	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs117438520	chr5:177973756-177973757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs544396527	chr5:177973757-177973758	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563678025	chr5:177973783-177973784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs551871407	chr5:177973791-177973792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs531023739	chr5:177973808-177973809	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs111612363	chr5:177973818-177973819	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs367763698	chr5:177973904-177973905	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561286392	chr5:177973913-177973914	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs528780518	chr5:177973931-177973932	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs559339486	chr5:177973967-177973968	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs374779072	chr5:177973983-177973984	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538876557	chr5:177973990-177973991	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551154639	chr5:177974029-177974030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568902393	chr5:177974125-177974126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs504596	chr5:177974127-177974128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554271466	chr5:177974168-177974169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183201813	chr5:177974169-177974170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534096342	chr5:177974193-177974194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565333919	chr5:177974197-177974198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371837908	chr5:177974205-177974206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558918536	chr5:177974250-177974251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551284297	chr5:177974293-177974294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188309510	chr5:177974343-177974344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556282447	chr5:177974350-177974351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116322488	chr5:177974359-177974360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201395968	chr5:177974372-177974373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145085916	chr5:177974411-177974412	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571423894	chr5:177974413-177974414	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191229631	chr5:177974419-177974420	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113437772	chr5:177974472-177974473	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61510906	chr5:177974479-177974480	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543567378	chr5:177974480-177974481	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529127666	chr5:177974484-177974485	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371847625	chr5:177974486-177974487	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28447464	chr5:177974491-177974492	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540212965	chr5:177974501-177974502	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565286366	chr5:177974525-177974526	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183608060	chr5:177974537-177974538	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532660340	chr5:177974539-177974540	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566028111	chr5:177974545-177974546	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567104286	chr5:177974566-177974567	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:177968600-177979400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:177968800-177974600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:177970000-177974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:177970200-177974200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:177970200-177974800	Enhancers	Fetal Heart	heart
7	chr5:177970600-177974000	Enhancers	Left Ventricle	heart
8	chr5:177971200-177974600	Enhancers	Right Ventricle	heart
9	chr5:177971400-177974000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:177972400-177974000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr5:177972400-177974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:177972600-177974400	Enhancers	Right Atrium	heart
13	chr5:177972800-177973800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:177972800-177973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:177972800-177973800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:177972800-177974000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:177972800-177975200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:177973000-177974000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:177973000-177975200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:177973200-177973600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:177973200-177973800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:177973400-177973600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:177973400-177973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr5:177973400-177973800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:177973400-177974200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:177973400-177974600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:177973400-177975600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177973600-177973800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:177973600-177974200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:177973600-177974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:177973600-177974600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:177973800-177974000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:177973800-177974000	Bivalent Enhancer	Placenta	Placenta
34	chr5:177973800-177974000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr5:177973800-177974200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:177973800-177974400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:177973800-177974400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:177973800-177974400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:177973800-177974400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:177973800-177974400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr5:177973800-177974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:177973800-177975800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:177974000-177974200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:177974000-177974400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:177974000-177974400	Enhancers	Fetal Stomach	stomach
46	chr5:177974000-177974600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177974000-177974800	Weak transcription	Left Ventricle	heart
48	chr5:177974200-177974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:177974200-177974600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:177974200-177975400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links