Variant report

Variant	nsv564652
Chromosome Location	chr14:44233634-44284461
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:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44233523..44237242-chr14:44247325..44250220,3	MCF-7	breast:
2	chr14:44118745..44119255-chr14:44233596..44234189,2	MCF-7	breast:
3	chr14:44254805..44256321-chr14:44256335..44258507,2	MCF-7	breast:
4	chr14:44118878..44120598-chr14:44261570..44263182,2	MCF-7	breast:
5	chr14:44252961..44256046-chr14:44259116..44261734,3	MCF-7	breast:
6	chr14:44233069..44235944-chr14:44237070..44239771,2	MCF-7	breast:
7	chr14:44239001..44241420-chr14:44242693..44244717,2	MCF-7	breast:
8	chr14:44264520..44265214-chr14:44367667..44368353,2	MCF-7	breast:
9	chr14:44239001..44241420-chr14:44242693..44244717,2	MCF-7	breast:
10	chr14:44086379..44089362-chr14:44231870..44234725,2	MCF-7	breast:
11	chr14:44248309..44251226-chr14:44260477..44263698,5	MCF-7	breast:
12	chr14:44116606..44118543-chr14:44247032..44249765,2	MCF-7	breast:
13	chr14:44205144..44205757-chr14:44233413..44234104,2	MCF-7	breast:
14	chr14:44232880..44235724-chr14:44246843..44251121,4	MCF-7	breast:
15	chr14:44116704..44120924-chr14:44232095..44235982,5	MCF-7	breast:
16	chr14:44250153..44252624-chr14:44254025..44256886,2	MCF-7	breast:
17	chr14:44251005..44253148-chr14:44254943..44257125,2	MCF-7	breast:
18	chr14:44232880..44235724-chr14:44246843..44251121,4	MCF-7	breast:
19	chr14:44233069..44235944-chr14:44237070..44239771,2	MCF-7	breast:
20	chr14:44252961..44256046-chr14:44259116..44261734,3	MCF-7	breast:
21	chr14:44248309..44251226-chr14:44260477..44263698,5	MCF-7	breast:
22	chr14:44262315..44264828-chr17:56707799..56709684,2	MCF-7	breast:
23	chr14:44249152..44254471-chr14:44260369..44263257,5	MCF-7	breast:
24	chr14:44254805..44256321-chr14:44256335..44258507,2	MCF-7	breast:
25	chr14:44232302..44233924-chr14:44251251..44254114,2	MCF-7	breast:
26	chr14:43380269..43381028-chr14:44264574..44265376,2	MCF-7	breast:
27	chr14:44118120..44120400-chr14:44236517..44238455,2	MCF-7	breast:
28	chr14:44251005..44253148-chr14:44254943..44257125,2	MCF-7	breast:
29	chr14:43488710..43489609-chr14:44233482..44234148,2	MCF-7	breast:
30	chr14:44232302..44233924-chr14:44251251..44254114,2	MCF-7	breast:
31	chr14:44238143..44240331-chr14:44246690..44250097,3	MCF-7	breast:
32	chr14:44250153..44252624-chr14:44254025..44256886,2	MCF-7	breast:
33	chr14:43972518..43973359-chr14:44264541..44265550,6	MCF-7	breast:
34	chr14:44238143..44240331-chr14:44246690..44250097,3	MCF-7	breast:
35	chr14:44250330..44252060-chr14:44369516..44373246,3	MCF-7	breast:
36	chr14:43485354..43487557-chr14:44249590..44251504,2	MCF-7	breast:
37	chr14:44233523..44237242-chr14:44247325..44250220,3	MCF-7	breast:
38	chr14:44248792..44250657-chr14:44368815..44370864,2	MCF-7	breast:
39	chr14:44118185..44120883-chr14:44261367..44263957,2	MCF-7	breast:
40	chr14:44249152..44254471-chr14:44260369..44263257,5	MCF-7	breast:
41	chr14:44118983..44120802-chr14:44250661..44252811,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf28-3	chr14:44270413-44270454	NONHSAT036601
2	lnc-C14orf28-3	chr14:44266689-44266858	NONHSAT036601

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1179 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11157363	chr14:44233634-44233635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34303331	chr14:44233681-44233682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34746047	chr14:44233703-44233704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572725401	chr14:44233778-44233779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374056935	chr14:44233797-44233798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546072027	chr14:44233804-44233805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563356616	chr14:44233850-44233851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149034706	chr14:44233923-44233924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181017632	chr14:44233928-44233929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1957251	chr14:44233938-44233939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113523427	chr14:44233960-44233961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541439667	chr14:44233985-44233986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1957252	chr14:44234025-44234026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567541714	chr14:44234026-44234027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527620410	chr14:44234109-44234110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185116931	chr14:44234125-44234126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570710191	chr14:44234253-44234254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531834946	chr14:44234255-44234256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536137082	chr14:44234283-44234284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552835890	chr14:44234312-44234313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550334209	chr14:44234314-44234315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79939636	chr14:44234319-44234320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535692632	chr14:44234359-44234360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559464026	chr14:44234372-44234373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554411651	chr14:44234392-44234393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151324302	chr14:44234405-44234406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189147959	chr14:44234422-44234423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117933702	chr14:44234454-44234455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562415502	chr14:44234499-44234500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575672390	chr14:44234548-44234549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140653213	chr14:44234567-44234568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372826910	chr14:44234618-44234619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150449734	chr14:44234621-44234622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367804159	chr14:44234715-44234716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138440798	chr14:44234726-44234727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529307671	chr14:44234746-44234747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56230719	chr14:44234860-44234861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117451791	chr14:44234895-44234896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545364332	chr14:44234924-44234925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368623984	chr14:44245852-44245853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555256911	chr14:44245856-44245857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573576834	chr14:44245903-44245904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367786019	chr14:44245913-44245914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182370836	chr14:44245930-44245931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187963460	chr14:44245936-44245937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192412736	chr14:44245956-44245957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544267469	chr14:44245989-44245990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562456917	chr14:44245992-44245993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552083878	chr14:44246217-44246218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58097482	chr14:44246234-44246235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
Mortal	21835882	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44233600-44235000	Enhancers	Hela-S3	cervix
2	chr14:44245800-44246000	Weak transcription	HepG2	liver
3	chr14:44246200-44247400	Enhancers	HepG2	liver
4	chr14:44247400-44247800	Active TSS	HepG2	liver
5	chr14:44247600-44248200	Enhancers	Liver	Liver
6	chr14:44247800-44248400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr14:44247800-44248400	Flanking Active TSS	HepG2	liver
8	chr14:44247800-44250000	Enhancers	Fetal Lung	lung
9	chr14:44248000-44248200	Enhancers	Stomach Mucosa	stomach
10	chr14:44248200-44248600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:44248200-44248800	Flanking Active TSS	Liver	Liver
12	chr14:44248200-44248800	Active TSS	A549	lung
13	chr14:44248400-44248800	Enhancers	Brain Substantia Nigra	brain
14	chr14:44248400-44248800	Enhancers	HepG2	liver
15	chr14:44248400-44249600	Enhancers	Fetal Heart	heart
16	chr14:44248600-44248800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:44248800-44249000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:44248800-44249600	Flanking Active TSS	HepG2	liver
19	chr14:44248800-44250200	Enhancers	Liver	Liver
20	chr14:44249400-44250200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:44249600-44250000	Enhancers	HepG2	liver
22	chr14:44249600-44250200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:44249600-44250200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:44249600-44250200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:44249600-44250200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr14:44249800-44250000	Enhancers	A549	lung
27	chr14:44249800-44250200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:44249800-44250200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:44249800-44250200	Enhancers	Stomach Mucosa	stomach
30	chr14:44250000-44250600	Flanking Active TSS	HepG2	liver
31	chr14:44250200-44251200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:44250200-44255000	Weak transcription	Liver	Liver
33	chr14:44250200-44255200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:44250200-44262800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:44250600-44252200	Enhancers	HepG2	liver
36	chr14:44251200-44251400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:44255000-44256200	Enhancers	Liver	Liver
38	chr14:44255200-44255600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:44255200-44255800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:44255200-44256000	Enhancers	Fetal Muscle Trunk	muscle
41	chr14:44255200-44256200	Enhancers	Fetal Muscle Leg	muscle
42	chr14:44255400-44255800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:44255600-44256000	Enhancers	Psoas Muscle	Psoas
44	chr14:44255600-44258400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:44255800-44256000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:44255800-44256000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:44258400-44259000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:44258600-44258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:44258600-44259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:44258800-44265400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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