Variant report

Variant	esv3419277
Chromosome Location	chr1:61572964-61577762
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61553637..61555847-chr1:61577099..61579668,2	K562	blood:
2	chr1:61546386..61549086-chr1:61577324..61581114,3	K562	blood:
3	chr1:61568661..61570875-chr1:61572479..61574440,2	K562	blood:
4	chr1:61514011..61517116-chr1:61571465..61573552,3	K562	blood:
5	chr1:61564265..61567252-chr1:61572023..61573732,2	K562	blood:
6	chr1:61549496..61552254-chr1:61576363..61578271,2	K562	blood:
7	chr1:61558889..61561862-chr1:61574499..61577159,2	K562	blood:
8	chr1:61546229..61553202-chr1:61567332..61574812,14	K562	blood:
9	chr1:61519435..61522332-chr1:61574406..61577353,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263380	chromatin interactions
ENSG00000162599	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35733387	chr1:61573036-61573037	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535740156	chr1:61573038-61573039	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181896547	chr1:61573093-61573094	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114541492	chr1:61573108-61573109	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527750745	chr1:61573123-61573124	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373006591	chr1:61573128-61573129	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199677747	chr1:61573137-61573138	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113615000	chr1:61573138-61573139	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71806046	chr1:61573139-61573140	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs59538712	chr1:61573142-61573143	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs202201072	chr1:61573143-61573144	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545391263	chr1:61573151-61573152	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9436629	chr1:61573163-61573164	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115106327	chr1:61573192-61573193	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186977714	chr1:61573196-61573197	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74086441	chr1:61573272-61573273	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548518982	chr1:61573279-61573280	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191448050	chr1:61573313-61573314	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539966871	chr1:61573322-61573323	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181954959	chr1:61573472-61573473	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552489275	chr1:61573478-61573479	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75012097	chr1:61573492-61573493	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534734582	chr1:61573493-61573494	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553414778	chr1:61573548-61573549	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547558562	chr1:61573550-61573551	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569604309	chr1:61573575-61573576	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570543924	chr1:61573609-61573610	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116405892	chr1:61573617-61573618	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61770476	chr1:61573633-61573634	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562801541	chr1:61573661-61573662	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576348510	chr1:61573675-61573676	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543738550	chr1:61573802-61573803	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565205995	chr1:61573856-61573857	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75782647	chr1:61573875-61573876	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555770721	chr1:61573913-61573914	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540687410	chr1:61574096-61574097	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559369870	chr1:61574104-61574105	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529754452	chr1:61574142-61574143	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548723309	chr1:61574147-61574148	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4915586	chr1:61574157-61574158	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531053788	chr1:61574168-61574169	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552429113	chr1:61574174-61574175	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570842187	chr1:61574178-61574179	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534980749	chr1:61574183-61574184	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4915728	chr1:61574202-61574203	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568502818	chr1:61574238-61574239	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570887869	chr1:61574265-61574266	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535571053	chr1:61574311-61574312	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557539000	chr1:61574314-61574315	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576282458	chr1:61574391-61574392	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61554600-61581200	Weak transcription	Esophagus	oesophagus
2	chr1:61556600-61573200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:61558600-61581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:61558600-61586000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:61559000-61582000	Weak transcription	Hela-S3	cervix
6	chr1:61560400-61575800	Weak transcription	Fetal Stomach	stomach
7	chr1:61561400-61576200	Weak transcription	HUVEC	blood vessel
8	chr1:61563600-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:61563800-61585600	Weak transcription	NHEK	skin
10	chr1:61563800-61585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:61565200-61574200	Weak transcription	HepG2	liver
13	chr1:61566000-61576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:61567000-61579000	Weak transcription	Left Ventricle	heart
15	chr1:61567600-61581200	Weak transcription	Ovary	ovary
16	chr1:61567600-61582000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:61568000-61580000	Weak transcription	A549	lung
18	chr1:61569000-61573400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:61569200-61573200	Weak transcription	Fetal Lung	lung
20	chr1:61569200-61573400	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:61569200-61574800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:61569200-61581000	Weak transcription	Stomach Mucosa	stomach
23	chr1:61569400-61576200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:61569800-61576200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:61569800-61576200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:61570000-61575800	Weak transcription	Aorta	Aorta
27	chr1:61570200-61575800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:61570600-61574200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:61570800-61575600	Weak transcription	Fetal Heart	heart
30	chr1:61570800-61575800	Weak transcription	Fetal Brain Male	brain
31	chr1:61570800-61575800	Weak transcription	Small Intestine	intestine
32	chr1:61571600-61575800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:61571800-61575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:61572200-61574400	Weak transcription	Liver	Liver
35	chr1:61572800-61573200	ZNF genes & repeats	Brain Substantia Nigra	brain
36	chr1:61572800-61573800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:61572800-61574600	ZNF genes & repeats	K562	blood
38	chr1:61573200-61574200	ZNF genes & repeats	Fetal Lung	lung
39	chr1:61573800-61574200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:61573800-61575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:61574000-61574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:61574000-61576400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:61574200-61575400	Weak transcription	Fetal Lung	lung
44	chr1:61574200-61577800	Enhancers	HepG2	liver
45	chr1:61574200-61578400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:61574400-61578800	Enhancers	Liver	Liver
47	chr1:61574600-61580000	Weak transcription	K562	blood
48	chr1:61574800-61575000	Enhancers	Fetal Brain Female	brain
49	chr1:61574800-61575000	Enhancers	Fetal Intestine Large	intestine
50	chr1:61574800-61578200	Enhancers	Adipose Nuclei	Adipose

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