Variant report

Variant	esv2753761
Chromosome Location	chr16:82182011-82187267
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82181923..82184718-chr16:82200148..82202665,2	K562	blood:
2	chr16:82184407..82186885-chr16:82187436..82189068,2	K562	blood:
3	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:
4	chr16:82185139..82187826-chr20:49350354..49352985,2	MCF-7	breast:
5	chr16:82185992..82189074-chr16:82193243..82196142,4	MCF-7	breast:
6	chr16:82181355..82183363-chr16:82185760..82189196,3	MCF-7	breast:
7	chr16:82185928..82187822-chr16:82197235..82199870,2	MCF-7	breast:
8	chr16:82184093..82185777-chr16:82196617..82198190,2	K562	blood:
9	chr16:82183487..82186422-chr16:82203517..82206140,2	MCF-7	breast:
10	chr16:82185306..82186813-chr16:82193802..82195374,2	MCF-7	breast:
11	chr16:82117593..82118221-chr16:82186289..82186795,2	MCF-7	breast:
12	chr16:82181355..82183363-chr16:82185760..82189196,3	MCF-7	breast:
13	chr16:82169980..82174652-chr16:82184410..82186452,4	MCF-7	breast:
14	chr16:82169199..82174282-chr16:82184479..82189945,7	MCF-7	breast:
15	chr16:82170213..82174323-chr16:82178396..82183619,5	MCF-7	breast:
16	chr16:82170684..82171505-chr16:82186323..82186849,2	MCF-7	breast:
17	chr16:82117260..82118221-chr16:82185963..82186837,6	MCF-7	breast:
18	chr16:82184389..82188133-chr16:82192183..82193900,3	K562	blood:
19	chr16:82176048..82178919-chr16:82182025..82184797,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261235	chromatin interactions
ENSG00000135698	chromatin interactions
ENSG00000261029	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1056654	chr16:82182011-82182012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191396618	chr16:82182056-82182057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199866689	chr16:82182070-82182071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183224471	chr16:82182082-82182083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1056629	chr16:82182104-82182105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs368835033	chr16:82182109-82182110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536584491	chr16:82182143-82182144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556799349	chr16:82182161-82182162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575767717	chr16:82182167-82182168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141453316	chr16:82182171-82182172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143338622	chr16:82182180-82182181	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577768465	chr16:82182187-82182188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545393700	chr16:82182227-82182228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3751862	chr16:82182229-82182230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572628618	chr16:82182265-82182266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151310364	chr16:82182268-82182269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561254836	chr16:82182283-82182284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3751863	chr16:82182286-82182287	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs3751864	chr16:82182297-82182298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376466130	chr16:82182310-82182311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140554747	chr16:82182316-82182317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374400427	chr16:82182333-82182334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199726943	chr16:82182345-82182346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187435180	chr16:82182348-82182349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs3751865	chr16:82182354-82182355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529931644	chr16:82182357-82182358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190760557	chr16:82182368-82182369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144748963	chr16:82182375-82182376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35937721	chr16:82182381-82182382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17852873	chr16:82182399-82182400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199892964	chr16:82182405-82182406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201231939	chr16:82182413-82182414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34375324	chr16:82182418-82182419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539248477	chr16:82182424-82182425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143500674	chr16:82182446-82182447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572737488	chr16:82182451-82182452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542947022	chr16:82182492-82182493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554586703	chr16:82182493-82182494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138408785	chr16:82182510-82182511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143800062	chr16:82182513-82182514	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372825002	chr16:82182514-82182515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146434427	chr16:82182533-82182534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138201779	chr16:82182536-82182537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532480762	chr16:82182554-82182555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs16956524	chr16:82182568-82182569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559275131	chr16:82182569-82182570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76039364	chr16:82182599-82182600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548035965	chr16:82182669-82182670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs16956527	chr16:82182756-82182757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530397263	chr16:82182757-82182758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
5	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:82171200-82185800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:82171200-82193400	Weak transcription	Ovary	ovary
9	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:82173200-82182400	Weak transcription	Fetal Intestine Large	intestine
11	chr16:82173400-82185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
15	chr16:82179000-82184200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:82179000-82184600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82179000-82184800	Strong transcription	Dnd41	blood
18	chr16:82179000-82185400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:82179000-82186000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:82179000-82186400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:82179000-82187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:82179200-82182400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:82179200-82182800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:82179200-82182800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:82179200-82183000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:82179200-82183200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:82179200-82183400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr16:82179200-82183400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:82179200-82183600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:82179200-82183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:82179200-82183600	Strong transcription	Fetal Stomach	stomach
32	chr16:82179200-82184600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:82179200-82184800	Strong transcription	HSMM	muscle
34	chr16:82179200-82185200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:82179200-82188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:82179400-82183000	Strong transcription	Fetal Brain Female	brain
38	chr16:82179400-82183000	Strong transcription	Fetal Muscle Leg	muscle
39	chr16:82179400-82183800	Strong transcription	NHLF	lung
40	chr16:82179400-82184400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:82179400-82184800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:82179400-82185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:82179400-82185400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:82179400-82186800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:82179400-82190000	Strong transcription	HMEC	breast
46	chr16:82179600-82183000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr16:82179600-82183000	Strong transcription	HUVEC	blood vessel
48	chr16:82179600-82184400	Strong transcription	Primary T cells from cord blood	blood
49	chr16:82179600-82184600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr16:82179600-82184600	Strong transcription	Rectal Mucosa Donor 29	rectum

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