Variant report

Variant	nsv1047821
Chromosome Location	chr14:44348233-44443127
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1726 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1726 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17243425	chr14:44348233-44348234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148284741	chr14:44348297-44348298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190042005	chr14:44348305-44348306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551513218	chr14:44348349-44348350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372863917	chr14:44348393-44348394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74050349	chr14:44348416-44348417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141245081	chr14:44348429-44348430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35846074	chr14:44348436-44348437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183342932	chr14:44348483-44348484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549124366	chr14:44348539-44348540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567522748	chr14:44348560-44348561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374850347	chr14:44348581-44348582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186286905	chr14:44348598-44348599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374804256	chr14:44348606-44348607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578210953	chr14:44348634-44348635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144790350	chr14:44348694-44348695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538604824	chr14:44348703-44348704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147414533	chr14:44348762-44348763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575371800	chr14:44348788-44348789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191112639	chr14:44348797-44348798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559720328	chr14:44348848-44348849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561039452	chr14:44348893-44348894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183290972	chr14:44348910-44348911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540089527	chr14:44348957-44348958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565166298	chr14:44348959-44348960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188786944	chr14:44348960-44348961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532351870	chr14:44348999-44349000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367831785	chr14:44349030-44349031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143551556	chr14:44349066-44349067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371437915	chr14:44349136-44349137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201851929	chr14:44349149-44349150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530865756	chr14:44349151-44349152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549087381	chr14:44349195-44349196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147128587	chr14:44349212-44349213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527974054	chr14:44349214-44349215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564948596	chr14:44349241-44349242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117912711	chr14:44349249-44349250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115184360	chr14:44349273-44349274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192636924	chr14:44349281-44349282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565898606	chr14:44349343-44349344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571904838	chr14:44349356-44349357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538975496	chr14:44349369-44349370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183450852	chr14:44349375-44349376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78288873	chr14:44349399-44349400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567123311	chr14:44349425-44349426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552871341	chr14:44349484-44349485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554690310	chr14:44349595-44349596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111936174	chr14:44349639-44349640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72676898	chr14:44349696-44349697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186619660	chr14:44349735-44349736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44342000-44364400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:44346600-44348400	Enhancers	Fetal Lung	lung
3	chr14:44348400-44348800	Weak transcription	Fetal Lung	lung
4	chr14:44348800-44349800	Enhancers	Fetal Lung	lung
5	chr14:44349800-44352800	Weak transcription	Fetal Lung	lung
6	chr14:44352800-44353200	Enhancers	Fetal Lung	lung
7	chr14:44353200-44355000	Weak transcription	Fetal Lung	lung
8	chr14:44354400-44354800	Enhancers	HepG2	liver
9	chr14:44355000-44355600	Enhancers	Fetal Lung	lung
10	chr14:44361000-44365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:44363600-44363800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:44363800-44364800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:44364200-44366200	Enhancers	HepG2	liver
14	chr14:44364400-44365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr14:44364800-44365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:44365200-44365600	Enhancers	Fetal Intestine Small	intestine
17	chr14:44365400-44365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:44365400-44367800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:44365600-44366800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:44365600-44367400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:44365600-44369400	Weak transcription	Fetal Intestine Small	intestine
22	chr14:44366200-44366600	Weak transcription	HepG2	liver
23	chr14:44366600-44366800	Enhancers	HepG2	liver
24	chr14:44366800-44367800	Weak transcription	HepG2	liver
25	chr14:44367400-44368200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:44367800-44368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:44367800-44368200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:44367800-44369000	Enhancers	HepG2	liver
29	chr14:44368000-44369400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:44368200-44369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:44368200-44369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:44369000-44370200	Flanking Active TSS	HepG2	liver
33	chr14:44369000-44371200	Enhancers	Fetal Intestine Large	intestine
34	chr14:44369400-44369600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:44369400-44369600	Enhancers	Fetal Kidney	kidney
36	chr14:44369400-44369800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:44369400-44369800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:44369400-44369800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:44369400-44369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:44369400-44370400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:44369400-44370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:44369400-44370600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:44369400-44371200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:44369400-44371400	Enhancers	Fetal Intestine Small	intestine
45	chr14:44369400-44373600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:44369800-44371000	Weak transcription	Fetal Kidney	kidney
47	chr14:44370200-44371400	Enhancers	HepG2	liver
48	chr14:44370600-44371200	Enhancers	Small Intestine	intestine
49	chr14:44370800-44371000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:44371000-44371400	Enhancers	Fetal Kidney	kidney

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