Variant report

Variant	esv990767
Chromosome Location	chr1:179270152-179277921
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179273495..179275891-chr1:179281691..179283640,2	K562	blood:
2	chr1:179263909..179265943-chr1:179276676..179278197,2	MCF-7	breast:
3	chr1:179264767..179267490-chr1:179269682..179272613,2	K562	blood:
4	chr1:179268906..179271012-chr1:179272704..179274645,2	K562	blood:
5	chr1:179262963..179265167-chr1:179269813..179271372,2	MCF-7	breast:
6	chr1:179264612..179267610-chr1:179271522..179273939,3	MCF-7	breast:
7	chr1:179266790..179268502-chr1:179273763..179275636,2	K562	blood:
8	chr1:179260118..179263991-chr1:179268022..179270892,4	K562	blood:
9	chr1:179271210..179274172-chr1:179284576..179287486,2	K562	blood:
10	chr1:179262649..179264550-chr1:179273241..179276604,3	K562	blood:
11	chr1:179261421..179263991-chr1:179268022..179270344,2	K562	blood:
12	chr1:179268906..179271012-chr1:179272704..179274645,2	K562	blood:
13	chr1:179261622..179263468-chr1:179274753..179276315,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000057252	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375253405	chr1:179270159-179270160	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576977006	chr1:179270179-179270180	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147672181	chr1:179270183-179270184	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367720661	chr1:179270202-179270203	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531835404	chr1:179270246-179270247	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551245360	chr1:179270268-179270269	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12031894	chr1:179270314-179270315	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545407547	chr1:179270315-179270316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547739814	chr1:179270327-179270328	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572491776	chr1:179270360-179270361	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76378661	chr1:179270372-179270373	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77413263	chr1:179270429-179270430	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73046677	chr1:179270457-179270458	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549842623	chr1:179270476-179270477	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569611747	chr1:179270508-179270509	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538744495	chr1:179270569-179270570	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs36052240	chr1:179270584-179270585	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111405133	chr1:179270610-179270611	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61091080	chr1:179270629-179270630	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3923881	chr1:179270636-179270637	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577844577	chr1:179270673-179270674	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534206441	chr1:179270699-179270700	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35607299	chr1:179270713-179270714	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146561725	chr1:179270731-179270732	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs3923882	chr1:179270792-179270793	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4333817	chr1:179270858-179270859	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111815375	chr1:179270908-179270909	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542607873	chr1:179270920-179270921	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562909720	chr1:179270938-179270939	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138794319	chr1:179270943-179270944	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148992661	chr1:179271021-179271022	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540873247	chr1:179271045-179271046	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183690539	chr1:179271080-179271081	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564906447	chr1:179271093-179271094	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527513905	chr1:179271155-179271156	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs80130618	chr1:179271159-179271160	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs5779019	chr1:179271161-179271162	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534390837	chr1:179271162-179271163	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75793173	chr1:179271163-179271164	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138277069	chr1:179271175-179271176	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56183114	chr1:179271176-179271177	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541322108	chr1:179271254-179271255	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561211785	chr1:179271337-179271338	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78852876	chr1:179271401-179271402	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143750596	chr1:179271402-179271403	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148175329	chr1:179271421-179271422	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10913709	chr1:179271432-179271433	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12727223	chr1:179271457-179271458	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12727233	chr1:179271482-179271483	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143076582	chr1:179271486-179271487	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264000-179271400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
5	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
6	chr1:179264400-179271400	Weak transcription	Left Ventricle	heart
7	chr1:179264600-179271400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:179264600-179271400	Weak transcription	Fetal Stomach	stomach
9	chr1:179264600-179271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:179264600-179271600	Weak transcription	Psoas Muscle	Psoas
11	chr1:179264600-179271600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:179264600-179272000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:179264600-179272800	Weak transcription	Fetal Lung	lung
14	chr1:179264600-179273400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:179264600-179273400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:179264600-179274200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:179264600-179275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
19	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
22	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:179264800-179270400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:179264800-179271400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:179264800-179271400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:179264800-179271600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:179264800-179271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:179264800-179271600	Weak transcription	HMEC	breast
31	chr1:179264800-179271800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:179264800-179271800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:179264800-179272000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:179264800-179272000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:179264800-179272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:179264800-179272000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:179264800-179272200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:179264800-179272200	Weak transcription	HSMM	muscle
39	chr1:179264800-179272200	Weak transcription	NHLF	lung
40	chr1:179264800-179273400	Weak transcription	Ovary	ovary
41	chr1:179264800-179276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:179264800-179276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:179264800-179277800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:179264800-179278800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:179264800-179279400	Weak transcription	HSMMtube	muscle
46	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
48	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:179265000-179271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:179265000-179272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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