Variant report

Variant	esv3330870
Chromosome Location	chr16:75428551-75432449
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	CEBPB	chr16:75432041-75432119	IMR90	lung:	n/a	n/a
2	CTCF	chr16:75432380-75432530	GM12873	blood:	n/a	n/a
3	MAFF	chr16:75430034-75430116	HepG2	liver:	n/a	n/a
4	MAFK	chr16:75430008-75430155	IMR90	lung:	n/a	n/a
5	MAFK	chr16:75429963-75430190	HepG2	liver:	n/a	n/a
6	MAFK	chr16:75429932-75430267	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:75431997-75432012	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr16:75432044-75432216	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:75431838-75431974	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75426315..75428728-chr16:75451819..75454335,2	K562	blood:

Variant related genes	Relation type
CFDP1	TF binding region

Extended variants
information (count: 210 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374175719	chr16:75428556-75428557	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556109830	chr16:75428613-75428614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145375108	chr16:75428631-75428632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547069540	chr16:75428655-75428656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34011665	chr16:75428716-75428717	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546643909	chr16:75428728-75428729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570235665	chr16:75428730-75428731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184815105	chr16:75428745-75428746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189745384	chr16:75428798-75428799	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181584499	chr16:75428856-75428857	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535772469	chr16:75428857-75428858	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2285226	chr16:75428874-75428875	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556063080	chr16:75428907-75428908	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572331561	chr16:75428915-75428916	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34567476	chr16:75428942-75428943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370355535	chr16:75428954-75428955	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373602756	chr16:75428961-75428962	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367774683	chr16:75428989-75428990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146975317	chr16:75428991-75428992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541463338	chr16:75428993-75428994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371488344	chr16:75428996-75428997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147621478	chr16:75429006-75429007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142200520	chr16:75429016-75429017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145857741	chr16:75429028-75429029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201085912	chr16:75429032-75429033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368315996	chr16:75429057-75429058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376675615	chr16:75429059-75429060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202002820	chr16:75429091-75429092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148232094	chr16:75429105-75429106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562545327	chr16:75429112-75429113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373984809	chr16:75429115-75429116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137946873	chr16:75429116-75429117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374771631	chr16:75429129-75429130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548172632	chr16:75429133-75429134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562044903	chr16:75429146-75429147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529976625	chr16:75429203-75429204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76974965	chr16:75429212-75429213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142313764	chr16:75429224-75429225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184540867	chr16:75429247-75429248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2285225	chr16:75429252-75429253	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs377050400	chr16:75429285-75429286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2285224	chr16:75429291-75429292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs570137686	chr16:75429296-75429297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536078597	chr16:75429316-75429317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111981839	chr16:75429324-75429325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2285223	chr16:75429333-75429334	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572797008	chr16:75429344-75429345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2285222	chr16:75429347-75429348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs571737104	chr16:75429354-75429355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558190963	chr16:75429381-75429382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
3	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
4	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
5	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
6	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:75421000-75429800	Strong transcription	Primary T cells from cord blood	blood
8	chr16:75421200-75429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:75421200-75429200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:75421400-75429000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:75421400-75429200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:75421400-75429200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:75421400-75429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:75421400-75429200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:75421400-75429200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:75421400-75429200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:75421400-75429200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:75421600-75430000	Strong transcription	HepG2	liver
19	chr16:75422200-75429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:75422600-75429800	Strong transcription	Dnd41	blood
21	chr16:75423000-75429200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:75423000-75429400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:75423400-75429400	Strong transcription	Fetal Thymus	thymus
24	chr16:75423600-75429400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:75423600-75429400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:75423800-75429000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr16:75423800-75429200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:75423800-75429200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:75423800-75429200	Strong transcription	NH-A	brain
30	chr16:75423800-75429400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:75424000-75429200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr16:75424000-75429200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:75424000-75429200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:75424000-75429400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr16:75424000-75429400	Strong transcription	Fetal Intestine Small	intestine
36	chr16:75424200-75429000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:75424200-75429200	Strong transcription	Primary B cells from cord blood	blood
38	chr16:75424200-75429200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:75424400-75429000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr16:75424400-75429200	Strong transcription	Osteobl	bone
41	chr16:75424600-75429200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:75424600-75429200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr16:75424600-75435600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr16:75424800-75429200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:75424800-75429600	Strong transcription	Fetal Muscle Leg	muscle
46	chr16:75424800-75430000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:75425000-75429000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr16:75425000-75429000	Strong transcription	Fetal Stomach	stomach
49	chr16:75425000-75429200	Strong transcription	Fetal Lung	lung
50	chr16:75425200-75428600	Weak transcription	Colon Smooth Muscle	Colon

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