Variant report

Variant	esv3442725
Chromosome Location	chr15:34601210-34604008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr15:34603701-34604489	PBDE	blood:	n/a	chr15:34603958-34603979 chr15:34603965-34603972 chr15:34603961-34603977 chr15:34603965-34603972 chr15:34603966-34603983 chr15:34603964-34603974 chr15:34603965-34603972
2	GATA2	chr15:34602375-34603003	K562	blood:	n/a	n/a
3	IRF4	chr15:34602239-34603050	GM12878	blood:	n/a	n/a
4	NR3C1	chr15:34602223-34603045	A549	lung:	n/a	n/a
5	NR3C1	chr15:34602335-34603054	A549	lung:	n/a	n/a
6	PAX5	chr15:34602223-34603073	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:34602726-34603005	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:34602236-34603189	GM12891	blood:	n/a	n/a
9	POLR2A	chr15:34602439-34602684	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:34602221-34603195	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:34602333-34602583	A549	lung:	n/a	n/a
12	POLR2A	chr15:34602247-34603059	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:34602368-34602696	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:34603833-34603995	ProgFib	skin:	n/a	n/a
15	POLR2A	chr15:34603834-34603976	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:34602226-34603135	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:34602306-34603071	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:34602295-34603030	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:34602270-34603141	GM12891	blood:	n/a	n/a
20	POLR2A	chr15:34602212-34603177	GM12891	blood:	n/a	n/a
21	POU2F2	chr15:34602236-34603075	GM12878	blood:	n/a	n/a
22	SP1	chr15:34602419-34602784	GM12878	blood:	n/a	n/a
23	TAL1	chr15:34603814-34604010	K562	blood:	n/a	chr15:34603965-34603983 chr15:34603964-34603972
24	ZBTB33	chr15:34602468-34602748	GM12878	blood:	n/a	n/a
25	ZBTB33	chr15:34602368-34602881	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34600219..34602527-chr15:34605319..34607496,2	K562	blood:
2	chr15:34597292..34600237-chr15:34600566..34603010,2	K562	blood:
3	chr15:34546535..34549806-chr15:34599595..34603199,3	K562	blood:
4	chr15:34598914..34602759-chr15:34631261..34635438,4	K562	blood:
5	chr15:34603925..34606336-chr15:34608232..34610231,2	K562	blood:
6	chr15:34543302..34545799-chr15:34603176..34605145,2	K562	blood:

Variant related genes	Relation type
ENSG00000207091	TF binding region
ENSG00000259468	chromatin interactions
ENSG00000207091	chromatin interactions
ENSG00000182117	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143431256	chr15:34601255-34601256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs566769581	chr15:34601277-34601278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs534269322	chr15:34601279-34601280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558784487	chr15:34601280-34601281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577723829	chr15:34601304-34601305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146739650	chr15:34601384-34601385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547855748	chr15:34601399-34601400	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549223771	chr15:34601423-34601424	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs140285422	chr15:34601430-34601431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185115149	chr15:34601436-34601437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs8023674	chr15:34601441-34601442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540283363	chr15:34601485-34601486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs536650468	chr15:34601536-34601537	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370218725	chr15:34601539-34601540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150332265	chr15:34601549-34601550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs529921553	chr15:34601580-34601581	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs28630895	chr15:34601646-34601647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532564979	chr15:34601652-34601653	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs347857	chr15:34601713-34601714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562829162	chr15:34601830-34601831	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530297841	chr15:34601845-34601846	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548495472	chr15:34601855-34601856	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs149217654	chr15:34601860-34601861	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375296427	chr15:34601862-34601863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs566810106	chr15:34601899-34601900	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527693560	chr15:34601915-34601916	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs57875866	chr15:34601945-34601946	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs79903696	chr15:34602000-34602001	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs347858	chr15:34602009-34602010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556683078	chr15:34602050-34602051	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374764657	chr15:34602055-34602056	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs8026499	chr15:34602076-34602077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137970365	chr15:34602129-34602130	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182799964	chr15:34602171-34602172	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs77038662	chr15:34602219-34602220	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112918768	chr15:34602257-34602258	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145783888	chr15:34602279-34602280	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559216701	chr15:34602297-34602298	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113695400	chr15:34602334-34602335	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs141449080	chr15:34602366-34602367	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs140651123	chr15:34602375-34602376	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs554427853	chr15:34602376-34602377	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs71415559	chr15:34602408-34602409	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs60783164	chr15:34602409-34602410	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs544809920	chr15:34602413-34602414	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146893132	chr15:34602424-34602425	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144951702	chr15:34602425-34602426	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs376877356	chr15:34602447-34602448	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs539896790	chr15:34602463-34602464	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371266104	chr15:34602502-34602503	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
3	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:34579000-34603800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
10	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
12	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
13	chr15:34585000-34610600	Weak transcription	Lung	lung
14	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
15	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:34585400-34602200	Weak transcription	Esophagus	oesophagus
17	chr15:34585400-34608600	Weak transcription	Liver	Liver
18	chr15:34585800-34604600	Weak transcription	Fetal Intestine Large	intestine
19	chr15:34585800-34610400	Weak transcription	Ovary	ovary
20	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
22	chr15:34587800-34604400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:34590000-34609000	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
27	chr15:34590200-34603800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:34590400-34604200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:34592200-34608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:34592600-34603800	Weak transcription	Primary T cells from cord blood	blood
31	chr15:34593000-34610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:34593600-34605400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:34593800-34609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:34594000-34607000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:34594000-34609400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:34594000-34610600	Weak transcription	Gastric	stomach
37	chr15:34594400-34602200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:34594400-34605800	Weak transcription	Fetal Heart	heart
39	chr15:34596000-34610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:34596400-34610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:34597400-34610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:34597400-34610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:34597400-34610200	Weak transcription	NHLF	lung
44	chr15:34597600-34606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:34597600-34606600	Weak transcription	Osteobl	bone
46	chr15:34597800-34601400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:34597800-34606600	Weak transcription	HepG2	liver
48	chr15:34598400-34607000	Weak transcription	Brain Angular Gyrus	brain
49	chr15:34598600-34610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:34598800-34609600	Weak transcription	Left Ventricle	heart

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