Variant report

Variant	esv3433531
Chromosome Location	chr14:81786188-81786983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81769150..81771592-chr14:81784774..81786401,2	K562	blood:
2	chr11:61841676..61843276-chr14:81785709..81787593,4	MCF-7	breast:
3	chr14:81684734..81687566-chr14:81785566..81790169,4	MCF-7	breast:
4	chr14:81784724..81787230-chr14:81789056..81790598,3	MCF-7	breast:
5	chr11:61841663..61842213-chr14:81786743..81787440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140022	chromatin interactions
ENSG00000165417	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577760121	chr14:81786201-81786202	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545025427	chr14:81786276-81786277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2146244	chr14:81786278-81786279	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs184429592	chr14:81786281-81786282	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189138218	chr14:81786335-81786336	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561605639	chr14:81786385-81786386	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116842855	chr14:81786388-81786389	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550444524	chr14:81786424-81786425	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568926108	chr14:81786457-81786458	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148399232	chr14:81786463-81786464	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556985727	chr14:81786475-81786476	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61978914	chr14:81786608-81786609	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370676677	chr14:81786633-81786634	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372461604	chr14:81786636-81786637	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542736140	chr14:81786651-81786652	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560864625	chr14:81786663-81786664	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566483354	chr14:81786715-81786716	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542679134	chr14:81786722-81786723	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374133442	chr14:81786737-81786738	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555619828	chr14:81786761-81786762	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201820136	chr14:81786772-81786773	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181884507	chr14:81786777-81786778	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201292236	chr14:81786783-81786784	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372266438	chr14:81786785-81786786	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375293885	chr14:81786786-81786787	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572915990	chr14:81786801-81786802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74910359	chr14:81786809-81786810	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537643998	chr14:81786827-81786828	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371955644	chr14:81786863-81786864	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555940442	chr14:81786865-81786866	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577673496	chr14:81786902-81786903	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545497665	chr14:81786919-81786920	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81773600-81790600	Weak transcription	K562	blood
2	chr14:81778400-81810800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:81778600-81786400	Weak transcription	Adipose Nuclei	Adipose
4	chr14:81778600-81789200	Weak transcription	Esophagus	oesophagus
5	chr14:81779600-81787000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:81779600-81788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:81780400-81786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:81780600-81790400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:81781000-81798400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:81781200-81792400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:81782000-81787000	Weak transcription	Spleen	Spleen
12	chr14:81782200-81790200	Weak transcription	Placenta	Placenta
13	chr14:81782200-81790600	Weak transcription	Psoas Muscle	Psoas
14	chr14:81782400-81788400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:81782400-81789000	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:81782600-81790200	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:81782800-81788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:81783000-81786200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:81783000-81787400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:81783000-81788000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:81783000-81788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:81783000-81788800	Weak transcription	Fetal Kidney	kidney
23	chr14:81783000-81789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:81783000-81789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:81783400-81786600	Strong transcription	HMEC	breast
26	chr14:81783600-81786600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:81783600-81787000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:81783600-81788000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:81783600-81788600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:81784000-81786600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:81784000-81787200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:81784000-81787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:81784200-81786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:81784200-81786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:81784200-81789200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:81784800-81786800	Enhancers	HepG2	liver
37	chr14:81785000-81787000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:81785200-81787600	Enhancers	Fetal Intestine Small	intestine
39	chr14:81785400-81786600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:81785400-81786600	Weak transcription	NHEK	skin
41	chr14:81785400-81787000	Enhancers	Fetal Intestine Large	intestine
42	chr14:81785800-81786200	Enhancers	Liver	Liver
43	chr14:81786000-81786600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:81786000-81786600	Enhancers	Stomach Mucosa	stomach
45	chr14:81786200-81787200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:81786200-81787200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:81786400-81786600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:81786400-81788600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:81786600-81786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:81786600-81786800	Weak transcription	HMEC	breast

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