Variant report

Variant	nsv901801
Chromosome Location	chr14:44344532-44506013
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:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44364361..44366552-chr14:44370416..44373233,2	MCF-7	breast:
2	chr14:44372607..44374197-chr14:44383168..44385135,2	MCF-7	breast:
3	chr14:44364217..44368954-chr14:44370108..44373061,4	MCF-7	breast:
4	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
5	chr14:44343776..44345372-chr14:44347119..44349752,2	K562	blood:
6	chr14:44250330..44252060-chr14:44369516..44373246,3	MCF-7	breast:
7	chr14:44370894..44373377-chr14:44375088..44376684,2	MCF-7	breast:
8	chr14:44368312..44369942-chr14:44371630..44373482,2	MCF-7	breast:
9	chr14:44118768..44119290-chr14:44370795..44371415,2	MCF-7	breast:
10	chr14:44370633..44373508-chr14:44616084..44618482,2	MCF-7	breast:
11	chr14:44364217..44368954-chr14:44370108..44373061,4	MCF-7	breast:
12	chr14:44370246..44372256-chr14:44617257..44619025,2	MCF-7	breast:
13	chr14:44248792..44250657-chr14:44368815..44370864,2	MCF-7	breast:
14	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:
15	chr14:44372607..44374197-chr14:44383168..44385135,2	MCF-7	breast:
16	chr1:149858085..149859649-chr14:44380057..44382174,2	MCF-7	breast:
17	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:
18	chr14:44369406..44371311-chr14:44371355..44373381,2	MCF-7	breast:
19	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
20	chr14:44369406..44371311-chr14:44371355..44373381,2	MCF-7	breast:
21	chr14:44370894..44373377-chr14:44375088..44376684,2	MCF-7	breast:
22	chr14:44364361..44366552-chr14:44370416..44373233,2	MCF-7	breast:
23	chr14:44264520..44265214-chr14:44367667..44368353,2	MCF-7	breast:
24	chr14:43972805..43973364-chr14:44367745..44368249,2	MCF-7	breast:
25	chr14:44368312..44369942-chr14:44371630..44373482,2	MCF-7	breast:
26	chr14:44343776..44345372-chr14:44347119..44349752,2	K562	blood:
27	chr14:44363445..44365963-chr14:45603332..45605742,2	K562	blood:
28	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-8	chr14:44477505-44479523	ucscGeneNc_uc001wvs_1
2	lnc-FSCB-2	chr14:44464984-44465046	ENSG00000258969

No data

Variant related genes	Relation type
ENSG00000100442	chromatin interactions
ENSG00000187790	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000229771	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184270	chromatin interactions

Extended variants
information (count: 2282 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2282 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11847608	chr14:44344532-44344533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141799073	chr14:44344543-44344544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549600121	chr14:44344563-44344564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570031314	chr14:44344564-44344565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528038564	chr14:44344582-44344583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552137729	chr14:44344693-44344694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570359662	chr14:44344707-44344708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144662608	chr14:44344725-44344726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552281727	chr14:44344759-44344760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536882565	chr14:44344772-44344773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567852072	chr14:44344790-44344791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73342952	chr14:44344796-44344797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35075377	chr14:44344812-44344813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186149743	chr14:44344817-44344818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572002550	chr14:44344847-44344848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545788498	chr14:44344864-44344865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371474028	chr14:44344890-44344891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577192097	chr14:44344936-44344937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74050347	chr14:44344949-44344950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150549750	chr14:44344952-44344953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530245814	chr14:44344960-44344961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372227322	chr14:44345030-44345031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542438262	chr14:44345049-44345050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190980432	chr14:44345149-44345150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74050348	chr14:44345175-44345176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552596771	chr14:44345193-44345194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116809842	chr14:44345251-44345252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139573126	chr14:44345311-44345312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549777381	chr14:44345316-44345317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183511112	chr14:44345320-44345321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546953616	chr14:44345388-44345389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535215818	chr14:44345505-44345506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553511371	chr14:44345526-44345527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565541608	chr14:44345527-44345528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539692218	chr14:44345557-44345558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149729045	chr14:44345655-44345656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187512152	chr14:44345731-44345732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192323266	chr14:44345750-44345751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74979003	chr14:44345786-44345787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556642266	chr14:44345807-44345808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183685755	chr14:44345833-44345834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542350293	chr14:44345840-44345841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369125291	chr14:44345885-44345886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560619022	chr14:44345955-44345956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555314535	chr14:44345976-44345977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546440743	chr14:44345988-44345989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147377285	chr14:44346012-44346013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543957943	chr14:44346019-44346020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2039078	chr14:44346052-44346053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561359333	chr14:44346067-44346068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44342000-44364400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:44342200-44346800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:44343000-44346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:44343200-44346200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:44345800-44346200	Enhancers	Fetal Brain Male	brain
6	chr14:44346200-44346400	Weak transcription	Fetal Brain Male	brain
7	chr14:44346400-44347800	Enhancers	Fetal Brain Male	brain
8	chr14:44346600-44347000	Enhancers	Liver	Liver
9	chr14:44346600-44347000	Enhancers	HepG2	liver
10	chr14:44346600-44348400	Enhancers	Fetal Lung	lung
11	chr14:44346800-44347000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:44346800-44347200	Enhancers	Fetal Brain Female	brain
13	chr14:44346800-44347800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:44347000-44347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:44347400-44347800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:44348400-44348800	Weak transcription	Fetal Lung	lung
17	chr14:44348800-44349800	Enhancers	Fetal Lung	lung
18	chr14:44349800-44352800	Weak transcription	Fetal Lung	lung
19	chr14:44352800-44353200	Enhancers	Fetal Lung	lung
20	chr14:44353200-44355000	Weak transcription	Fetal Lung	lung
21	chr14:44354400-44354800	Enhancers	HepG2	liver
22	chr14:44355000-44355600	Enhancers	Fetal Lung	lung
23	chr14:44361000-44365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:44363600-44363800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:44363800-44364800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:44364200-44366200	Enhancers	HepG2	liver
27	chr14:44364400-44365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:44364800-44365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:44365200-44365600	Enhancers	Fetal Intestine Small	intestine
30	chr14:44365400-44365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:44365400-44367800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:44365600-44366800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:44365600-44367400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:44365600-44369400	Weak transcription	Fetal Intestine Small	intestine
35	chr14:44366200-44366600	Weak transcription	HepG2	liver
36	chr14:44366600-44366800	Enhancers	HepG2	liver
37	chr14:44366800-44367800	Weak transcription	HepG2	liver
38	chr14:44367400-44368200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:44367800-44368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:44367800-44368200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr14:44367800-44369000	Enhancers	HepG2	liver
42	chr14:44368000-44369400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:44368200-44369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:44368200-44369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:44369000-44370200	Flanking Active TSS	HepG2	liver
46	chr14:44369000-44371200	Enhancers	Fetal Intestine Large	intestine
47	chr14:44369400-44369600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:44369400-44369600	Enhancers	Fetal Kidney	kidney
49	chr14:44369400-44369800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr14:44369400-44369800	Enhancers	HUES6 Cell Line	embryonic stem cell

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