Variant report

Variant	nsv829423
Chromosome Location	chr2:54177847-54181052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:54180216-54180441	K562	blood:	n/a	n/a
2	POLR2A	chr2:54179702-54179946	A549	lung:	n/a	n/a
3	POLR2A	chr2:54179630-54180169	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:54178745-54179071	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:54179426-54179548	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:54179880-54180038	K562	blood:	n/a	n/a
7	POLR2A	chr2:54179675-54180237	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:54180803-54181073	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:54179652-54180104	K562	blood:	n/a	n/a
10	POLR2A	chr2:54179827-54180004	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:54179589-54180076	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr2:54178683-54178883	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr2:54180636-54180737	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54180002..54182412-chr2:54196011..54198361,3	MCF-7	breast:
2	chr2:54173684..54175896-chr2:54177409..54179300,2	K562	blood:
3	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
4	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
5	chr2:54178658..54180382-chr2:54186719..54189310,2	K562	blood:
6	chr2:54177874..54180266-chr2:54264594..54267225,2	K562	blood:
7	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:
8	chr2:54174239..54176293-chr2:54179701..54182021,2	MCF-7	breast:
9	chr2:54179906..54182578-chr2:54184932..54187194,2	K562	blood:
10	chr2:54179674..54181660-chr2:54183447..54186390,2	MCF-7	breast:
11	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:

No data

Variant related genes	Relation type
PSME4	TF binding region
ENSG00000068878	chromatin interactions
ENSG00000170634	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547764231	chr2:54177857-54177858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374220207	chr2:54177924-54177925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561191068	chr2:54177927-54177928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530987032	chr2:54177960-54177961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377018458	chr2:54177978-54177979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529668837	chr2:54177990-54177991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368874172	chr2:54177992-54177993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77155080	chr2:54177993-54177994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562912681	chr2:54178001-54178002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531748138	chr2:54178007-54178008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549720020	chr2:54178048-54178049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116542392	chr2:54178066-54178067	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538757190	chr2:54178118-54178119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551755100	chr2:54178123-54178124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs805449	chr2:54178132-54178133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs144785024	chr2:54178200-54178201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554850449	chr2:54178210-54178211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548003112	chr2:54178217-54178218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372868625	chr2:54178224-54178225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561507216	chr2:54178252-54178253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78765454	chr2:54178270-54178271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537072921	chr2:54178277-54178278	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147931725	chr2:54178286-54178287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368847629	chr2:54178296-54178297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs76459000	chr2:54178302-54178303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577153806	chr2:54178312-54178313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546360260	chr2:54178314-54178315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76949516	chr2:54178316-54178317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75186151	chr2:54178323-54178324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs75911003	chr2:54178324-54178325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74366621	chr2:54178326-54178327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75473571	chr2:54178332-54178333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79869149	chr2:54178341-54178342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74701378	chr2:54178345-54178346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79282440	chr2:54178357-54178358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79304909	chr2:54178360-54178361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553503797	chr2:54178365-54178366	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77600785	chr2:54178367-54178368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572276387	chr2:54178377-54178378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541188288	chr2:54178392-54178393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78486851	chr2:54178401-54178402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79110467	chr2:54178405-54178406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77684393	chr2:54178406-54178407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76269280	chr2:54178414-54178415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80053028	chr2:54178416-54178417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530027749	chr2:54178423-54178424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75136147	chr2:54178428-54178429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs202052253	chr2:54178435-54178436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185924944	chr2:54178446-54178447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567736849	chr2:54178448-54178449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
6	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
8	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
9	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
10	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
11	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
12	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:54161600-54189800	Weak transcription	Ovary	ovary
16	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:54172800-54179200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
20	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
23	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
24	chr2:54174400-54178400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:54174400-54179600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:54174400-54180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:54174400-54182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
32	chr2:54174600-54178200	Weak transcription	Fetal Lung	lung
33	chr2:54174600-54180400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:54175000-54179800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:54175200-54179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
38	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:54176000-54179800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:54176200-54178600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:54176200-54179400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:54176200-54180000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:54176200-54180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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