Variant report

Variant	esv3369163
Chromosome Location	chr16:71932875-71933152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71933142-71933549	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:71932963-71933310	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71926844..71931687-chr16:71933054..71938868,11	MCF-7	breast:
2	chr16:71933089..71936060-chr16:71938711..71940740,2	MCF-7	breast:
3	chr16:71929970..71932998-chr16:71952269..71954857,3	K562	blood:
4	chr16:71932998..71934672-chr16:71946050..71948887,2	K562	blood:
5	chr16:71931575..71934137-chr16:71950822..71953492,2	MCF-7	breast:
6	chr16:71931560..71934913-chr16:71937416..71939939,3	K562	blood:
7	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:
8	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF821	TF binding region
ENSG00000224470	chromatin interactions
ENSG00000102984	chromatin interactions
ENSG00000182149	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565063865	chr16:71932883-71932884	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10711796	chr16:71932886-71932887	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs371252912	chr16:71932887-71932888	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532320571	chr16:71932893-71932894	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537728489	chr16:71932911-71932912	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539896588	chr16:71932928-71932929	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs550545149	chr16:71932965-71932966	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs570161843	chr16:71932987-71932988	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs531032002	chr16:71933005-71933006	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs549356879	chr16:71933034-71933035	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs183860922	chr16:71933041-71933042	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs371112207	chr16:71933049-71933050	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368996983	chr16:71933063-71933064	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs8055655	chr16:71933091-71933092	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377417433	chr16:71933134-71933135	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930400-71934800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr16:71930600-71934200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:71930800-71933400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:71930800-71933600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:71930800-71934000	Enhancers	Ovary	ovary
6	chr16:71930800-71934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:71930800-71934800	Enhancers	Small Intestine	intestine
8	chr16:71930800-71935400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr16:71930800-71935400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:71930800-71943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:71931000-71934000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:71931000-71934600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:71931000-71934600	Enhancers	Colon Smooth Muscle	Colon
17	chr16:71931000-71937000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:71931000-71937800	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:71931000-71942800	Weak transcription	Fetal Heart	heart
20	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:71931000-71949600	Weak transcription	NHEK	skin
22	chr16:71931200-71933200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:71931200-71933200	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:71931200-71933200	Weak transcription	Placenta	Placenta
25	chr16:71931200-71933600	Strong transcription	Fetal Intestine Small	intestine
26	chr16:71931200-71933600	Strong transcription	Fetal Stomach	stomach
27	chr16:71931200-71934000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:71931200-71934000	Enhancers	Left Ventricle	heart
29	chr16:71931200-71934000	Weak transcription	Psoas Muscle	Psoas
30	chr16:71931200-71934000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:71931200-71934000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr16:71931200-71934000	Weak transcription	NHLF	lung
33	chr16:71931200-71934200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:71931200-71934200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:71931200-71934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:71931200-71934600	Enhancers	Brain Hippocampus Middle	brain
37	chr16:71931200-71934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:71931200-71935000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:71931200-71935600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr16:71931200-71935800	Weak transcription	NH-A	brain
41	chr16:71931200-71936600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr16:71931200-71936800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr16:71931200-71936800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:71931200-71936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:71931200-71937000	Weak transcription	Brain Germinal Matrix	brain
46	chr16:71931200-71938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:71931200-71940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr16:71931200-71942800	Weak transcription	HSMM	muscle
49	chr16:71931200-71943000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr16:71931200-71943000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links