Variant report

Variant	esv3358337
Chromosome Location	chr16:74870676-74873224
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	CHD2	chr16:74872400-74872536	K562	blood:	n/a	n/a
2	CUX1	chr16:74872478-74872659	K562	blood:	n/a	n/a
3	JUND	chr16:74872431-74872790	K562	blood:	n/a	chr16:74872705-74872716 chr16:74872705-74872715 chr16:74872705-74872715 chr16:74872706-74872714
4	MAZ	chr16:74872457-74872718	K562	blood:	n/a	n/a
5	NFIC	chr16:74871027-74871513	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chr16:74872371-74872693	K562	blood:	n/a	n/a
7	RCOR1	chr16:74872552-74872749	K562	blood:	n/a	n/a
8	UBTF	chr16:74872530-74872533	K562	blood:	n/a	n/a
9	ZNF384	chr16:74872289-74872960	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74859894..74862181-chr16:74872505..74874523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261458	TF binding region

Extended variants
information (count: 190 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs545920714	chr16:74870682-74870683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140426761	chr16:74870686-74870687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552886446	chr16:74870696-74870697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558523272	chr16:74870697-74870698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12596585	chr16:74870714-74870715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183955824	chr16:74870718-74870719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12927778	chr16:74870755-74870756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561629243	chr16:74870766-74870767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34993380	chr16:74870793-74870794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111909328	chr16:74870819-74870820	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540844699	chr16:74870825-74870826	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560696848	chr16:74870859-74870860	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541673523	chr16:74870870-74870871	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528192986	chr16:74870883-74870884	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540553554	chr16:74870929-74870930	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188582442	chr16:74870942-74870943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564685687	chr16:74870943-74870944	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181380169	chr16:74870975-74870976	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116355257	chr16:74871000-74871001	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186594557	chr16:74871022-74871023	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72794780	chr16:74871029-74871030	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546365868	chr16:74871038-74871039	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190320866	chr16:74871049-74871050	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377174204	chr16:74871072-74871073	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538735494	chr16:74871084-74871085	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113343005	chr16:74871092-74871093	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117813237	chr16:74871175-74871176	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538260094	chr16:74871181-74871182	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554929163	chr16:74871183-74871184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561750817	chr16:74871229-74871230	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540975708	chr16:74871284-74871285	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76063772	chr16:74871295-74871296	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114957911	chr16:74871307-74871308	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181925161	chr16:74871340-74871341	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76840137	chr16:74871360-74871361	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs929884	chr16:74871364-74871365	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187427028	chr16:74871446-74871447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550536217	chr16:74871453-74871454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149988388	chr16:74871465-74871466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539810292	chr16:74871471-74871472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529933808	chr16:74871474-74871475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74398009	chr16:74871477-74871478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191073843	chr16:74871493-74871494	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs538449369	chr16:74871565-74871566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142650053	chr16:74871566-74871567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146915968	chr16:74871571-74871572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139242140	chr16:74871618-74871619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72794781	chr16:74871638-74871639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146021961	chr16:74871642-74871643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559818476	chr16:74871647-74871648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	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
Epilepsy	20502679	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74864800-74877200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:74865000-74870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:74867600-74870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:74868600-74872200	Weak transcription	Placenta	Placenta
5	chr16:74870000-74872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:74870600-74870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:74870600-74877000	Weak transcription	Esophagus	oesophagus
8	chr16:74870800-74871000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr16:74870800-74871200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:74870800-74871200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:74870800-74871200	Enhancers	Brain Germinal Matrix	brain
12	chr16:74870800-74871200	Enhancers	Colon Smooth Muscle	Colon
13	chr16:74870800-74871200	Enhancers	A549	lung
14	chr16:74870800-74871400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:74870800-74871400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:74870800-74871400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:74870800-74871400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:74870800-74871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:74870800-74871600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr16:74870800-74871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:74870800-74871600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:74870800-74871600	Enhancers	Brain Substantia Nigra	brain
23	chr16:74870800-74871600	Enhancers	HMEC	breast
24	chr16:74870800-74871600	Enhancers	NHEK	skin
25	chr16:74870800-74872400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr16:74871000-74871200	Enhancers	Fetal Brain Female	brain
27	chr16:74871000-74871400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr16:74871000-74871600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr16:74871000-74871600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr16:74871000-74871600	Enhancers	Stomach Smooth Muscle	stomach
31	chr16:74871200-74871400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr16:74871200-74872200	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:74871200-74872200	Weak transcription	A549	lung
34	chr16:74871400-74872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:74871400-74872400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:74871400-74872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:74871400-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:74871600-74872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:74871600-74872000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:74871600-74875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:74871600-74875800	Weak transcription	NHEK	skin
42	chr16:74871600-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:74871600-74876000	Weak transcription	HMEC	breast
44	chr16:74872000-74872400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr16:74872000-74872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr16:74872000-74872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr16:74872000-74872800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr16:74872200-74872400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:74872200-74872400	Enhancers	Colon Smooth Muscle	Colon
50	chr16:74872200-74872400	Enhancers	A549	lung

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