Variant report

Variant	nsv967080
Chromosome Location	chr3:156430320-156432848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:156431657-156431730	Medullo	brain:	n/a	n/a
2	CTCF	chr3:156432326-156432377	GM10248	blood:	n/a	n/a
3	CTCF	chr3:156432302-156432317	GM10248	blood:	n/a	n/a
4	HEY1	chr3:156432626-156432834	K562	blood:	n/a	n/a
5	HEY1	chr3:156432652-156432844	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:156432698-156432813	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:156432608-156432879	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:156432697-156432852	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:156432619-156432967	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:156432712-156432832	A549	lung:	n/a	n/a
11	POLR2A	chr3:156431846-156431877	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:156432413-156432623	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:156432613-156432832	GM12891	blood:	n/a	n/a
14	POLR2A	chr3:156430396-156430403	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:156432175-156432432	ProgFib	skin:	n/a	n/a
16	POLR2A	chr3:156432587-156432592	ProgFib	skin:	n/a	n/a
17	POLR2A	chr3:156431453-156431574	ProgFib	skin:	n/a	n/a
18	POLR2A	chr3:156432746-156432776	K562	blood:	n/a	n/a
19	POLR2A	chr3:156432586-156432761	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr3:156432684-156432816	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:156432702-156432780	A549	lung:	n/a	n/a
22	POLR2A	chr3:156432602-156432692	ProgFib	skin:	n/a	n/a
23	POLR2A	chr3:156432694-156432798	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:156432700-156432791	A549	lung:	n/a	n/a
25	POLR2A	chr3:156432752-156432771	ProgFib	skin:	n/a	n/a
26	TAF1	chr3:156432667-156432830	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr3:156432669-156432828	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr3:156432651-156432843	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156428100..156430443-chr3:156543237..156545884,2	K562	blood:

No data

Variant related genes	Relation type
METTL15P1	TF binding region
ENSG00000197980	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540187825	chr3:156430379-156430380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553239470	chr3:156430387-156430388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574682038	chr3:156430391-156430392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200803670	chr3:156430426-156430427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188209772	chr3:156430429-156430430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563363374	chr3:156430481-156430482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371826472	chr3:156430528-156430529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545927771	chr3:156430542-156430543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62277395	chr3:156430628-156430629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528099506	chr3:156430721-156430722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375333502	chr3:156430738-156430739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546239966	chr3:156430749-156430750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568041707	chr3:156430754-156430755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143866012	chr3:156430763-156430764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529606634	chr3:156430911-156430912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551235583	chr3:156430963-156430964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180713518	chr3:156430982-156430983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367905370	chr3:156430984-156430985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200894013	chr3:156430993-156430994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539611226	chr3:156431017-156431018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17373227	chr3:156431045-156431046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs566585613	chr3:156431060-156431061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534017551	chr3:156431147-156431148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144640997	chr3:156431281-156431282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573953746	chr3:156431362-156431363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535415913	chr3:156431410-156431411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557184655	chr3:156431563-156431564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575530387	chr3:156431590-156431591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374413978	chr3:156431606-156431607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534823833	chr3:156431626-156431627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377742078	chr3:156431636-156431637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186160067	chr3:156431676-156431677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190191471	chr3:156431692-156431693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369491726	chr3:156431707-156431708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540322260	chr3:156431732-156431733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61733487	chr3:156431750-156431751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528867542	chr3:156431776-156431777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182421792	chr3:156431912-156431913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562794475	chr3:156431917-156431918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578138058	chr3:156431933-156431934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533357252	chr3:156431994-156431995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149636271	chr3:156432015-156432016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566720702	chr3:156432026-156432027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186711669	chr3:156432029-156432030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549438065	chr3:156432043-156432044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62277396	chr3:156432088-156432089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538208675	chr3:156432089-156432090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556980375	chr3:156432090-156432091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575571426	chr3:156432093-156432094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17852865	chr3:156432147-156432148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Neurodevelopmental disorder	22521361	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156394000-156436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:156395600-156438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:156396600-156441000	Weak transcription	Lung	lung
4	chr3:156416000-156437000	Weak transcription	Pancreas	Pancrea
5	chr3:156416000-156443000	Weak transcription	Aorta	Aorta
6	chr3:156417000-156430400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:156419800-156433800	Weak transcription	Esophagus	oesophagus
8	chr3:156422800-156430400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:156422800-156431400	Weak transcription	Fetal Kidney	kidney
10	chr3:156422800-156436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:156422800-156436400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:156422800-156436400	Weak transcription	Placenta	Placenta
13	chr3:156422800-156437600	Weak transcription	Thymus	Thymus
14	chr3:156422800-156438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:156422800-156442800	Weak transcription	Psoas Muscle	Psoas
16	chr3:156423000-156436000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:156423000-156443200	Weak transcription	Small Intestine	intestine
18	chr3:156423000-156445800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:156423600-156431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:156424000-156440800	Weak transcription	NHLF	lung
21	chr3:156424200-156432600	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:156424200-156436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:156424200-156443000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:156424200-156445800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:156424400-156430800	Weak transcription	Brain Anterior Caudate	brain
26	chr3:156424400-156433400	Weak transcription	Primary T cells from cord blood	blood
27	chr3:156424400-156434600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:156424400-156435000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:156424400-156436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:156424400-156436600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:156424400-156438400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:156424400-156438400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:156424400-156438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:156424400-156438600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:156424400-156438600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:156424800-156438400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:156425400-156434800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:156425600-156430600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:156425600-156432800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:156425600-156435000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:156425800-156430400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:156425800-156432800	Weak transcription	Fetal Intestine Large	intestine
43	chr3:156426000-156431800	Weak transcription	HSMMtube	muscle
44	chr3:156426000-156435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:156426600-156446000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr3:156427400-156434400	Weak transcription	Fetal Thymus	thymus
47	chr3:156427600-156435400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:156428200-156438400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:156428400-156439200	Weak transcription	K562	blood
50	chr3:156428600-156432000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links