Variant report

Variant	nsv1040791
Chromosome Location	chr14:56401927-56424831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56399761..56402429-chr14:56440899..56442886,2	K562	blood:
2	chr12:9799281..9800002-chr14:56409811..56410509,2	MCF-7	breast:
3	chr14:56258843..56261080-chr14:56411606..56413589,2	K562	blood:

Variant related genes	Relation type
ENSG00000258791	chromatin interactions

Extended variants
information (count: 980 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17090728	chr14:56401927-56401928	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376274593	chr14:56401973-56401974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11624430	chr14:56401990-56401991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75344845	chr14:56402005-56402006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190808827	chr14:56402018-56402019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549338369	chr14:56402077-56402078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530598948	chr14:56402108-56402109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536207828	chr14:56402129-56402130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147864295	chr14:56402139-56402140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555951545	chr14:56402145-56402146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11326969	chr14:56402189-56402190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372145058	chr14:56402198-56402199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376008484	chr14:56402240-56402241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182986038	chr14:56402251-56402252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538209042	chr14:56402253-56402254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187285851	chr14:56402276-56402277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8020688	chr14:56402278-56402279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs542907441	chr14:56402324-56402325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202089924	chr14:56402339-56402340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533809460	chr14:56402350-56402351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140840617	chr14:56402352-56402353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141869370	chr14:56402362-56402363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75701772	chr14:56402375-56402376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191828948	chr14:56402393-56402394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147124938	chr14:56402405-56402406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565208721	chr14:56402406-56402407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79175030	chr14:56402422-56402423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184578779	chr14:56402451-56402452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138326852	chr14:56402460-56402461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187867124	chr14:56402468-56402469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549282980	chr14:56402474-56402475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561183044	chr14:56402485-56402486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192294010	chr14:56402486-56402487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149199569	chr14:56402534-56402535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11624604	chr14:56402554-56402555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538716422	chr14:56402588-56402589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76747913	chr14:56402616-56402617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398099367	chr14:56402618-56402619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115063512	chr14:56402623-56402624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369256570	chr14:56402626-56402627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143334604	chr14:56402649-56402650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535881010	chr14:56402659-56402660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554811401	chr14:56402671-56402672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576351799	chr14:56402684-56402685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11624693	chr14:56402716-56402717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11624789	chr14:56402741-56402742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577406495	chr14:56402746-56402747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185846679	chr14:56402747-56402748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559620844	chr14:56402757-56402758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574850934	chr14:56402801-56402802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56393600-56405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56396200-56404200	Weak transcription	Gastric	stomach
3	chr14:56397600-56402200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:56400400-56404200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56400800-56404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:56401000-56404400	Weak transcription	HSMMtube	muscle
7	chr14:56401200-56404800	Weak transcription	Esophagus	oesophagus
8	chr14:56402200-56402400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:56402400-56405200	Enhancers	Fetal Intestine Small	intestine
10	chr14:56402600-56405000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:56402800-56404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:56403400-56405400	Enhancers	Pancreas	Pancrea
13	chr14:56403400-56405600	Enhancers	Fetal Heart	heart
14	chr14:56403400-56405600	Enhancers	Fetal Muscle Leg	muscle
15	chr14:56403600-56404400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:56403600-56404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:56403600-56406000	Enhancers	Brain Germinal Matrix	brain
18	chr14:56403800-56404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:56403800-56404600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:56403800-56404600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:56404000-56404200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:56404000-56404600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:56404000-56406000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:56404200-56404400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:56404200-56404400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:56404200-56404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:56404200-56404800	Enhancers	Brain Anterior Caudate	brain
28	chr14:56404200-56404800	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:56404200-56405200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:56404200-56405400	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:56404200-56405400	Enhancers	Fetal Brain Male	brain
32	chr14:56404200-56405400	Enhancers	Gastric	stomach
33	chr14:56404200-56405600	Enhancers	Brain Substantia Nigra	brain
34	chr14:56404200-56405800	Enhancers	Brain Hippocampus Middle	brain
35	chr14:56404200-56406000	Enhancers	Fetal Brain Female	brain
36	chr14:56404200-56411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:56404400-56404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:56404400-56404800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:56404400-56405200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:56404400-56405200	Enhancers	NHDF-Ad	bronchial
41	chr14:56404400-56405400	Enhancers	Brain Angular Gyrus	brain
42	chr14:56404400-56405600	Enhancers	HSMMtube	muscle
43	chr14:56404400-56405800	Enhancers	HMEC	breast
44	chr14:56404400-56406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:56404400-56406000	Enhancers	Colon Smooth Muscle	Colon
46	chr14:56404400-56407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:56404600-56405000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:56404600-56405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:56404600-56405200	Enhancers	Adipose Nuclei	Adipose
50	chr14:56404600-56405400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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