Variant report

Variant	esv3388706
Chromosome Location	chr16:74871401-74872549
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	UBTF	chr16:74872530-74872533	K562	blood:	n/a	n/a
8	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: 115 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187427028	chr16:74871446-74871447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550536217	chr16:74871453-74871454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149988388	chr16:74871465-74871466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539810292	chr16:74871471-74871472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529933808	chr16:74871474-74871475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74398009	chr16:74871477-74871478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191073843	chr16:74871493-74871494	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538449369	chr16:74871565-74871566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142650053	chr16:74871566-74871567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146915968	chr16:74871571-74871572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139242140	chr16:74871618-74871619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72794781	chr16:74871638-74871639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146021961	chr16:74871642-74871643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559818476	chr16:74871647-74871648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185210216	chr16:74871652-74871653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562107754	chr16:74871653-74871654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72794783	chr16:74871660-74871661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141782713	chr16:74871676-74871677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372747746	chr16:74871678-74871679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200658154	chr16:74871697-74871698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189977172	chr16:74871698-74871699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201465460	chr16:74871741-74871742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118078279	chr16:74871750-74871751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183364007	chr16:74871752-74871753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556516691	chr16:74871754-74871755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11642668	chr16:74871758-74871759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373654073	chr16:74871768-74871769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55844984	chr16:74871785-74871786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201689165	chr16:74871792-74871793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372776983	chr16:74871793-74871794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188195800	chr16:74871794-74871795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56237123	chr16:74871801-74871802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11642702	chr16:74871802-74871803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56000142	chr16:74871804-74871805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375361645	chr16:74871807-74871808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368333823	chr16:74871814-74871815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55693366	chr16:74871815-74871816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397934322	chr16:74871821-74871822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201586964	chr16:74871822-74871823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12929128	chr16:74871830-74871831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12927502	chr16:74871832-74871833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56368011	chr16:74871839-74871840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12929132	chr16:74871840-74871841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374455056	chr16:74871842-74871843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368518972	chr16:74871843-74871844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55644846	chr16:74871849-74871850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62052868	chr16:74871850-74871851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62052869	chr16:74871852-74871853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12929137	chr16:74871858-74871859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12927530	chr16:74871860-74871861	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74864800-74877200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:74868600-74872200	Weak transcription	Placenta	Placenta
3	chr16:74870000-74872600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:74870600-74877000	Weak transcription	Esophagus	oesophagus
5	chr16:74870800-74871600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr16:74870800-74871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:74870800-74871600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:74870800-74871600	Enhancers	Brain Substantia Nigra	brain
9	chr16:74870800-74871600	Enhancers	HMEC	breast
10	chr16:74870800-74871600	Enhancers	NHEK	skin
11	chr16:74870800-74872400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:74871000-74871600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr16:74871000-74871600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:74871000-74871600	Enhancers	Stomach Smooth Muscle	stomach
15	chr16:74871200-74872200	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:74871200-74872200	Weak transcription	A549	lung
17	chr16:74871400-74872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:74871400-74872400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:74871400-74872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:74871400-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:74871600-74872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:74871600-74872000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:74871600-74875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:74871600-74875800	Weak transcription	NHEK	skin
25	chr16:74871600-74876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:74871600-74876000	Weak transcription	HMEC	breast
27	chr16:74872000-74872400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:74872000-74872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr16:74872000-74872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr16:74872000-74872800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr16:74872200-74872400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:74872200-74872400	Enhancers	Colon Smooth Muscle	Colon
33	chr16:74872200-74872400	Enhancers	A549	lung
34	chr16:74872200-74872600	Flanking Active TSS	K562	blood
35	chr16:74872200-74873400	Enhancers	Placenta	Placenta
36	chr16:74872400-74872600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr16:74872400-74872600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:74872400-74872600	Flanking Active TSS	A549	lung
39	chr16:74872400-74872800	Enhancers	HUES6 Cell Line	embryonic stem cell

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