Variant report

Variant	nsv976810
Chromosome Location	chr14:24355098-24391885
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:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24196509..24197383-chr14:24379485..24380305,3	MCF-7	breast:
2	chr14:24367668..24369872-chr14:24380729..24382872,2	MCF-7	breast:
3	chr14:24379532..24380450-chr14:24398433..24399596,4	MCF-7	breast:
4	chr14:24374071..24375981-chr14:24379547..24381223,2	MCF-7	breast:
5	chr14:24101138..24101802-chr14:24379345..24380372,3	MCF-7	breast:
6	chr14:24385007..24385588-chr16:1170286..1171117,2	MCF-7	breast:
7	chr14:24374071..24375981-chr14:24379547..24381223,2	MCF-7	breast:
8	chr14:23734440..23735164-chr14:24379754..24380308,2	K562	blood:
9	chr14:24023867..24026834-chr14:24381922..24383614,2	MCF-7	breast:
10	chr14:24135021..24135757-chr14:24379552..24380434,3	K562	blood:
11	chr14:24367668..24369872-chr14:24380729..24382872,2	MCF-7	breast:
12	chr14:24369477..24371271-chr14:24373150..24375447,2	MCF-7	breast:
13	chr14:24364444..24365228-chr14:24398939..24399664,2	MCF-7	breast:
14	chr14:24379400..24381891-chr14:24382310..24386501,5	MCF-7	breast:
15	chr14:24057948..24058785-chr14:24379654..24380433,3	MCF-7	breast:
16	chr14:24135008..24135675-chr14:24379547..24380109,2	MCF-7	breast:
17	chr14:24375347..24377058-chr14:24377884..24379427,2	MCF-7	breast:
18	chr14:24196293..24198579-chr14:24376705..24379372,2	MCF-7	breast:
19	chr14:24379400..24381891-chr14:24382310..24386501,5	MCF-7	breast:
20	chr14:24375347..24377058-chr14:24377884..24379427,2	MCF-7	breast:
21	chr14:24196065..24197211-chr14:24379506..24380505,6	MCF-7	breast:
22	chr14:24377314..24380302-chr14:24421961..24424811,2	MCF-7	breast:
23	chr14:24100935..24102387-chr14:24378922..24380374,7	MCF-7	breast:
24	chr14:24369477..24371271-chr14:24373150..24375447,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRL-2	chr14:24391459-24391795	NONHSAT035951
2	lnc-NRL-2	chr14:24391456-24391795	ENSG00000259334.1

No data

Variant related genes	Relation type
ENSG00000136367	chromatin interactions
ENSG00000259431	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000157306	chromatin interactions
ENSG00000215256	chromatin interactions

Extended variants
information (count: 997 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:997 , 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	rs543196660	chr14:24355107-24355108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544618806	chr14:24355133-24355134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564511123	chr14:24355163-24355164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531144330	chr14:24355215-24355216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544570078	chr14:24355229-24355230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28661896	chr14:24355244-24355245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530234198	chr14:24355256-24355257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533006496	chr14:24355257-24355258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547133825	chr14:24355279-24355280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370380468	chr14:24355325-24355326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373491466	chr14:24355357-24355358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140601201	chr14:24362232-24362233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374474076	chr14:24362240-24362241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113002452	chr14:24362269-24362270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12050347	chr14:24362270-24362271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558310481	chr14:24362274-24362275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185800067	chr14:24362278-24362279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371253877	chr14:24362300-24362301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77799379	chr14:24362385-24362386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375017228	chr14:24362390-24362391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367959491	chr14:24362396-24362397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555312474	chr14:24362405-24362406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2146571	chr14:24362418-24362419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs540853267	chr14:24362422-24362423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377025065	chr14:24362438-24362439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554383217	chr14:24362502-24362503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148986665	chr14:24362509-24362510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190173869	chr14:24362522-24362523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182346511	chr14:24362532-24362533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368951403	chr14:24362563-24362564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562787561	chr14:24362638-24362639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372222037	chr14:24362689-24362690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531733359	chr14:24362768-24362769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140945054	chr14:24362781-24362782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115665432	chr14:24362789-24362790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369502296	chr14:24362793-24362794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529909598	chr14:24362795-24362796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138143436	chr14:24363858-24363859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575253126	chr14:24363867-24363868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557620250	chr14:24363871-24363872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374222955	chr14:24363876-24363877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192301690	chr14:24363885-24363886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369161575	chr14:24363933-24363934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116456663	chr14:24364040-24364041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568050213	chr14:24364041-24364042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372755719	chr14:24364080-24364081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534544128	chr14:24364096-24364097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149478198	chr14:24364131-24364132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1467587	chr14:24364150-24364151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540037706	chr14:24364154-24364155	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24351800-24355200	Enhancers	Fetal Brain Male	brain
2	chr14:24352000-24355200	Enhancers	Fetal Intestine Small	intestine
3	chr14:24353200-24355200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:24353600-24355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:24353600-24355400	Enhancers	Brain Germinal Matrix	brain
6	chr14:24354400-24355200	Enhancers	Fetal Brain Female	brain
7	chr14:24355000-24355200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:24355000-24355200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:24355000-24355200	Enhancers	Brain Angular Gyrus	brain
10	chr14:24362200-24362800	Enhancers	K562	blood
11	chr14:24363800-24365000	Enhancers	HepG2	liver
12	chr14:24364000-24364200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr14:24364000-24364400	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:24364400-24369200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:24364600-24364800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:24364800-24365000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr14:24365400-24366200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:24365800-24366200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:24366000-24366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:24368800-24370200	Bivalent Enhancer	HepG2	liver
21	chr14:24369200-24370200	Enhancers	Fetal Intestine Large	intestine
22	chr14:24369200-24370400	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:24369200-24370400	Enhancers	Fetal Intestine Small	intestine
24	chr14:24370200-24373600	Weak transcription	Fetal Intestine Large	intestine
25	chr14:24370400-24372400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:24370400-24372800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:24372400-24372600	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:24372600-24373000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:24372800-24373400	Enhancers	Fetal Intestine Small	intestine
30	chr14:24373000-24373200	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:24373200-24374400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:24373400-24374400	Weak transcription	Fetal Intestine Small	intestine
33	chr14:24373600-24374600	Enhancers	Fetal Intestine Large	intestine
34	chr14:24374400-24375400	Enhancers	Fetal Intestine Small	intestine
35	chr14:24374400-24375600	Enhancers	Duodenum Mucosa	Duodenum
36	chr14:24374600-24376000	Weak transcription	Fetal Intestine Large	intestine
37	chr14:24375400-24376400	Weak transcription	Fetal Intestine Small	intestine
38	chr14:24375600-24375800	Bivalent Enhancer	HepG2	liver
39	chr14:24375600-24376400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:24376200-24376400	Enhancers	Fetal Intestine Large	intestine
41	chr14:24376400-24376800	Enhancers	Duodenum Mucosa	Duodenum
42	chr14:24376400-24376800	Enhancers	Fetal Intestine Small	intestine
43	chr14:24378200-24379800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:24378400-24380400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:24378800-24379200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:24379200-24379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:24379600-24380000	Enhancers	Osteobl	bone
48	chr14:24379600-24380200	Enhancers	Brain Germinal Matrix	brain
49	chr14:24379600-24380800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:24379600-24380800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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