Variant report

Variant	nsv902069
Chromosome Location	chr14:69068384-69077457
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:2)
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	chr14:69068555..69070348-chr14:69070905..69073728,2	K562	blood:
2	chr14:69069857..69071530-chr14:69072196..69073805,2	MCF-7	breast:
3	chr14:69076773..69079330-chr14:69081666..69084664,2	K562	blood:
4	chr14:69063634..69066048-chr14:69070455..69072811,2	K562	blood:
5	chr14:69070456..69072481-chr14:69073546..69076454,2	K562	blood:
6	chr14:68863006..68865932-chr14:69077018..69079780,3	MCF-7	breast:
7	chr14:69064012..69066620-chr14:69071141..69073837,2	MCF-7	breast:
8	chr14:69073750..69075278-chr14:69076266..69078869,2	K562	blood:
9	chr14:68715328..68716236-chr14:69076885..69077730,2	MCF-7	breast:
10	chr14:69067505..69070348-chr14:69070905..69074097,3	K562	blood:
11	chr14:69070456..69072481-chr14:69073546..69076454,2	K562	blood:
12	chr14:69065107..69068379-chr14:69069760..69071455,4	MCF-7	breast:
13	chr14:69073750..69075278-chr14:69076266..69078869,2	K562	blood:
14	chr14:69074322..69077383-chr14:69088480..69091108,3	MCF-7	breast:
15	chr14:69072937..69074516-chr14:69083531..69085230,2	MCF-7	breast:
16	chr14:69071037..69077466-chr14:69256300..69263431,10	MCF-7	breast:
17	chr14:69068555..69070348-chr14:69070905..69073728,2	K562	blood:
18	chr14:69032584..69034400-chr14:69071783..69073472,2	MCF-7	breast:
19	chr14:69075162..69077749-chr14:69093538..69096283,3	MCF-7	breast:
20	chr14:69075358..69077601-chr14:69259541..69262084,2	MCF-7	breast:
21	chr14:69073812..69075425-chr14:69080872..69083380,2	MCF-7	breast:
22	chr14:69069857..69071530-chr14:69072196..69073805,2	MCF-7	breast:
23	chr14:69067505..69070348-chr14:69070905..69074097,3	K562	blood:
24	chr14:69043815..69046176-chr14:69072899..69075411,2	MCF-7	breast:
25	chr14:69034895..69037596-chr14:69073887..69076844,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD2-3	chr14:69070537-69071064	NONHSAT037488
2	lnc-EXD2-3	chr14:69075009-69075605	NONHSAT037488

No data

Variant related genes	Relation type
ENSG00000259038	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12878344	chr14:69068384-69068385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs114072945	chr14:69068443-69068444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531053652	chr14:69068451-69068452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549254864	chr14:69068460-69068461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561278676	chr14:69068488-69068489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555711716	chr14:69068521-69068522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146925756	chr14:69068547-69068548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189400007	chr14:69068584-69068585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571613158	chr14:69068629-69068630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532644427	chr14:69068709-69068710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550842701	chr14:69068717-69068718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529971435	chr14:69068780-69068781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542144520	chr14:69068799-69068800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4902608	chr14:69068823-69068824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537279035	chr14:69068843-69068844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72729542	chr14:69068875-69068876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368313136	chr14:69068876-69068877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567587422	chr14:69068877-69068878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371764344	chr14:69068883-69068884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111305186	chr14:69068935-69068936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181355581	chr14:69068961-69068962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72729543	chr14:69068992-69068993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116749343	chr14:69069177-69069178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552116092	chr14:69069178-69069179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78658253	chr14:69069179-69069180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141678292	chr14:69069188-69069189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372109393	chr14:69069217-69069218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375131842	chr14:69069219-69069220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72729544	chr14:69069227-69069228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200090711	chr14:69069231-69069232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202147813	chr14:69069232-69069233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561213566	chr14:69069234-69069235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11845204	chr14:69069235-69069236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2331777	chr14:69069236-69069237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368465687	chr14:69069237-69069238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66737614	chr14:69069239-69069240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565279411	chr14:69069243-69069244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71425369	chr14:69069246-69069247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532441231	chr14:69069247-69069248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71129899	chr14:69069259-69069260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551080697	chr14:69069262-69069263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574497227	chr14:69069263-69069264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530694539	chr14:69069291-69069292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549213508	chr14:69069320-69069321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184412899	chr14:69069361-69069362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534919944	chr14:69069380-69069381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36035347	chr14:69069416-69069417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61987060	chr14:69069509-69069510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189018372	chr14:69069516-69069517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11158752	chr14:69069517-69069518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
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
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
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
2	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69064400-69070800	Enhancers	Fetal Intestine Large	intestine
5	chr14:69065200-69069000	Enhancers	Lung	lung
6	chr14:69065400-69068400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69065400-69069000	Enhancers	Pancreas	Pancrea
8	chr14:69066000-69070600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:69066000-69070600	Enhancers	Fetal Intestine Small	intestine
10	chr14:69066000-69071200	Weak transcription	Esophagus	oesophagus
11	chr14:69066000-69073800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:69066200-69070200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:69066200-69070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69066200-69070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:69066400-69068800	Enhancers	Duodenum Mucosa	Duodenum
16	chr14:69066400-69072600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:69066400-69073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:69066600-69070000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:69066600-69070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:69066600-69070400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:69066600-69070800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:69066800-69070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69066800-69072200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:69066800-69072200	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:69067000-69068800	Weak transcription	Gastric	stomach
26	chr14:69067000-69072800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:69067000-69074000	Weak transcription	Spleen	Spleen
28	chr14:69067200-69068600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr14:69067200-69069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:69067200-69070200	Weak transcription	Fetal Thymus	thymus
31	chr14:69067200-69072400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:69067200-69072600	Weak transcription	Colonic Mucosa	Colon
33	chr14:69067200-69072600	Weak transcription	Left Ventricle	heart
34	chr14:69067200-69072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:69067200-69072800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:69067200-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:69067200-69073400	Weak transcription	Fetal Lung	lung
38	chr14:69067200-69073400	Weak transcription	Right Ventricle	heart
39	chr14:69067200-69073400	Weak transcription	Stomach Mucosa	stomach
40	chr14:69067200-69073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:69067200-69074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:69067400-69070400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:69067400-69073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:69067600-69068400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:69067600-69069600	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:69067600-69069800	Weak transcription	Adipose Nuclei	Adipose
47	chr14:69067600-69070000	Weak transcription	Fetal Kidney	kidney
48	chr14:69067600-69070200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:69067600-69073000	Weak transcription	Right Atrium	heart
50	chr14:69067600-69074400	Weak transcription	Small Intestine	intestine

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