Variant report

Variant	nsv564954
Chromosome Location	chr14:67044103-67124785
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
2	chr14:67044325..67045049-chr8:77423954..77424779,2	MCF-7	breast:
3	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
4	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
5	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
6	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
7	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
8	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
9	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
10	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
11	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
12	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
13	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
14	chr14:66973300..66976249-chr14:67075152..67078057,2	MCF-7	breast:
15	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
16	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
17	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
18	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:
19	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
20	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
21	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 3572 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3572 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8005965	chr14:67044103-67044104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72724599	chr14:67044112-67044113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117553054	chr14:67044121-67044122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190853603	chr14:67044127-67044128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149468133	chr14:67044169-67044170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561576197	chr14:67044177-67044178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368812062	chr14:67044181-67044182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201808142	chr14:67044266-67044267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530519030	chr14:67044267-67044268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550243266	chr14:67044293-67044294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183200338	chr14:67044299-67044300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113247045	chr14:67044310-67044311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192981571	chr14:67044341-67044342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184659349	chr14:67044400-67044401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565897319	chr14:67044470-67044471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564028644	chr14:67044482-67044483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143863685	chr14:67044655-67044656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76814616	chr14:67044682-67044683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568400591	chr14:67044744-67044745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537435254	chr14:67044868-67044869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557000834	chr14:67044885-67044886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148593071	chr14:67044891-67044892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188125686	chr14:67044892-67044893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539709479	chr14:67044902-67044903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553213936	chr14:67045069-67045070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573072090	chr14:67045077-67045078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145683909	chr14:67045091-67045092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555426301	chr14:67045107-67045108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192357349	chr14:67045188-67045189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374081167	chr14:67045194-67045195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1952067	chr14:67045214-67045215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536573999	chr14:67045250-67045251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563893818	chr14:67045251-67045252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375663259	chr14:67045294-67045295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183462418	chr14:67045306-67045307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112608139	chr14:67045328-67045329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528650836	chr14:67045367-67045368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199661586	chr14:67045372-67045373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574302625	chr14:67045373-67045374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60924688	chr14:67045391-67045392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368555940	chr14:67045392-67045393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370376725	chr14:67045397-67045398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374956210	chr14:67045406-67045407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367644245	chr14:67045416-67045417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147735809	chr14:67045419-67045420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372186708	chr14:67045420-67045421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547561108	chr14:67045445-67045446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140927019	chr14:67045448-67045449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181842926	chr14:67045473-67045474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77098432	chr14:67045474-67045475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Malignant peripheral nerve sheath tumor	18522746	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
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67042000-67067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67043800-67045200	Enhancers	HUVEC	blood vessel
3	chr14:67045200-67046800	Weak transcription	HUVEC	blood vessel
4	chr14:67046800-67047400	Enhancers	HUVEC	blood vessel
5	chr14:67048800-67049000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:67054600-67054800	Enhancers	Gastric	stomach
7	chr14:67056600-67065800	Weak transcription	Gastric	stomach
8	chr14:67062000-67062400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:67062000-67063200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:67062000-67063600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:67062200-67062400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:67062200-67062600	ZNF genes & repeats	Spleen	Spleen
13	chr14:67062200-67063600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:67062200-67063800	ZNF genes & repeats	Pancreas	Pancrea
15	chr14:67062400-67062800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:67062400-67064000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr14:67062400-67064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:67062400-67064600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:67062600-67063000	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr14:67062600-67064000	Weak transcription	Spleen	Spleen
21	chr14:67062800-67063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:67063000-67063200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:67063000-67063800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:67063200-67067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:67063800-67067000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:67064000-67064600	ZNF genes & repeats	Spleen	Spleen
27	chr14:67064200-67064600	Enhancers	Right Ventricle	heart
28	chr14:67064400-67064800	Enhancers	HUVEC	blood vessel
29	chr14:67064600-67067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:67067000-67067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:67067000-67067800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:67067000-67067800	Enhancers	HMEC	breast
33	chr14:67067000-67068000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:67067000-67068800	Enhancers	NHEK	skin
35	chr14:67067000-67069600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:67067200-67067400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:67067200-67067600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:67067200-67067600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:67067200-67067600	Enhancers	Osteobl	bone
40	chr14:67067200-67067800	Enhancers	Hela-S3	cervix
41	chr14:67067600-67068600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:67068000-67068200	Flanking Active TSS	GM12878-XiMat	blood
43	chr14:67068000-67068400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:67068200-67068600	Enhancers	GM12878-XiMat	blood
45	chr14:67068400-67069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:67068400-67069800	Enhancers	Liver	Liver
47	chr14:67068600-67068800	Flanking Active TSS	GM12878-XiMat	blood
48	chr14:67068600-67069000	Enhancers	Fetal Intestine Small	intestine
49	chr14:67068600-67069400	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:67068800-67069000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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