Variant report

Variant	esv3382237
Chromosome Location	chr16:71192017-71192438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71188598..71191008-chr16:71192418..71194500,2	K562	blood:
2	chr16:71190387..71192872-chr16:71197969..71199497,2	MCF-7	breast:
3	chr1:146645984..146648441-chr16:71191804..71194473,2	K562	blood:
4	chr16:71180800..71183455-chr16:71191857..71194078,2	K562	blood:
5	chr16:71187877..71190382-chr16:71190613..71192536,2	MCF-7	breast:
6	chr16:71188987..71192929-chr16:71194834..71197955,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271721	chromatin interactions
ENSG00000157423	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142606248	chr16:71192025-71192026	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140658990	chr16:71192026-71192027	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186074715	chr16:71192036-71192037	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371410601	chr16:71192040-71192041	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572867602	chr16:71192073-71192074	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539967868	chr16:71192083-71192084	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373689529	chr16:71192102-71192103	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs8063512	chr16:71192119-71192120	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558700483	chr16:71192129-71192130	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576654647	chr16:71192132-71192133	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144355587	chr16:71192187-71192188	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs386385017	chr16:71192208-71192209	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376922949	chr16:71192218-71192219	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76357026	chr16:71192219-71192220	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183186799	chr16:71192230-71192231	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201683589	chr16:71192292-71192293	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs8063809	chr16:71192299-71192300	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186125858	chr16:71192318-71192319	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372539760	chr16:71192358-71192359	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561144863	chr16:71192363-71192364	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564768371	chr16:71192392-71192393	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190986173	chr16:71192402-71192403	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs6499483	chr16:71192409-71192410	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71185600-71192600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:71185600-71192800	Weak transcription	Fetal Brain Male	brain
3	chr16:71185600-71192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71185800-71192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:71186800-71192600	Weak transcription	Fetal Kidney	kidney
6	chr16:71187000-71192800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:71187400-71193200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:71187800-71192800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:71187800-71194400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:71188000-71192800	Weak transcription	Brain Anterior Caudate	brain
11	chr16:71188800-71194000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:71189200-71192800	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:71190000-71192800	Weak transcription	Brain Germinal Matrix	brain
14	chr16:71190000-71192800	Weak transcription	Ovary	ovary
15	chr16:71191400-71192400	Flanking Active TSS	Dnd41	blood
16	chr16:71191400-71193400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr16:71191400-71193400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:71191400-71194800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr16:71191600-71192200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr16:71191600-71192200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr16:71191600-71192400	Strong transcription	Fetal Brain Female	brain
22	chr16:71191600-71193000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:71191600-71193000	ZNF genes & repeats	Aorta	Aorta
24	chr16:71191600-71193000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr16:71191600-71193200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr16:71191600-71195400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr16:71191800-71192200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:71191800-71192200	Strong transcription	Brain Angular Gyrus	brain
29	chr16:71191800-71192600	Weak transcription	Fetal Lung	lung
30	chr16:71191800-71193000	ZNF genes & repeats	Pancreas	Pancrea
31	chr16:71191800-71193400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:71191800-71195600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr16:71192000-71192200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:71192200-71194600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr16:71192200-71201400	Weak transcription	Brain Angular Gyrus	brain
36	chr16:71192400-71192800	Enhancers	Dnd41	blood
37	chr16:71192400-71195400	ZNF genes & repeats	Fetal Brain Female	brain

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