Variant report

Variant	esv20407
Chromosome Location	chr16:70338596-70341204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70335532..70338884-chr16:70342954..70346060,3	MCF-7	breast:
2	chr16:70319890..70322761-chr16:70339573..70342006,2	K562	blood:
3	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
4	chr16:70321312..70323493-chr16:70338115..70340559,2	MCF-7	breast:
5	chr16:70338862..70341028-chr16:70375885..70378298,2	MCF-7	breast:
6	chr16:70333712..70335282-chr16:70336416..70339025,2	K562	blood:
7	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:
8	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
9	chr16:70332960..70334617-chr16:70337801..70340497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090861	chromatin interactions
ENSG00000157349	chromatin interactions
ENSG00000260537	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368145298	chr16:70338638-70338639	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs140990840	chr16:70338648-70338649	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529949603	chr16:70338656-70338657	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs550047859	chr16:70338663-70338664	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115189349	chr16:70338794-70338795	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs534540419	chr16:70338800-70338801	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs569591313	chr16:70338811-70338812	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150237567	chr16:70338895-70338896	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs57492770	chr16:70338902-70338903	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138899751	chr16:70338925-70338926	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs58434182	chr16:70338926-70338927	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575838778	chr16:70338973-70338974	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539827093	chr16:70339019-70339020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538622715	chr16:70339020-70339021	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs561444059	chr16:70339023-70339024	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs116470613	chr16:70339053-70339054	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs77476190	chr16:70339096-70339097	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs140681353	chr16:70339097-70339098	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532698834	chr16:70339104-70339105	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183283715	chr16:70339137-70339138	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569188202	chr16:70339139-70339140	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs111690529	chr16:70339154-70339155	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114501135	chr16:70339245-70339246	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112954485	chr16:70339317-70339318	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs74024196	chr16:70339397-70339398	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138503511	chr16:70339415-70339416	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs200337995	chr16:70339436-70339437	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571008482	chr16:70339438-70339439	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538387942	chr16:70339442-70339443	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75919493	chr16:70339478-70339479	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs61391917	chr16:70339512-70339513	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187581451	chr16:70339519-70339520	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs141523640	chr16:70339520-70339521	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs534663446	chr16:70339545-70339546	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371929997	chr16:70339631-70339632	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573485413	chr16:70339691-70339692	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540824623	chr16:70339719-70339720	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570517018	chr16:70339751-70339752	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565517885	chr16:70339801-70339802	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs532760776	chr16:70339881-70339882	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574972453	chr16:70339908-70339909	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544667363	chr16:70339915-70339916	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs561919077	chr16:70339955-70339956	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs11865863	chr16:70339992-70339993	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551376201	chr16:70340030-70340031	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs537382419	chr16:70340033-70340034	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548328757	chr16:70340072-70340073	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs374010139	chr16:70340085-70340086	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567532337	chr16:70340121-70340122	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs528416599	chr16:70340172-70340173	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70343800	Weak transcription	Lung	lung
2	chr16:70333800-70348800	Weak transcription	Placenta	Placenta
3	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:70333800-70350200	Weak transcription	Gastric	stomach
5	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
6	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
7	chr16:70334000-70338800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:70334000-70339000	Weak transcription	Primary T cells from cord blood	blood
9	chr16:70334000-70348800	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
15	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:70334000-70349800	Weak transcription	Ovary	ovary
20	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
21	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
23	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
25	chr16:70334200-70338800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:70334200-70338800	Weak transcription	HMEC	breast
27	chr16:70334200-70338800	Weak transcription	NHEK	skin
28	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
32	chr16:70334400-70340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
35	chr16:70334600-70339000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:70334600-70339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:70335000-70338800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:70335200-70338800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:70335200-70338800	Weak transcription	NH-A	brain
42	chr16:70335200-70339000	Weak transcription	Liver	Liver
43	chr16:70335200-70344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:70335200-70347000	Weak transcription	Adipose Nuclei	Adipose
45	chr16:70335200-70348800	Weak transcription	Brain Angular Gyrus	brain
46	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
49	chr16:70335400-70347200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:70335400-70349200	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links