Variant report

Variant	esv1847812
Chromosome Location	chr14:67068957-67114998
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000171723	chromatin interactions
ENSG00000258561	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59353274	chr14:67069200-67069201	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142141711	chr14:67069234-67069235	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150757613	chr14:67069245-67069246	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548324955	chr14:67069251-67069252	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373323217	chr14:67069254-67069255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112711573	chr14:67069255-67069256	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537455996	chr14:67069279-67069280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139086962	chr14:67069285-67069286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537148173	chr14:67069333-67069334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531044135	chr14:67069394-67069395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550346917	chr14:67069433-67069434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570099163	chr14:67069469-67069470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189901496	chr14:67069485-67069486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558846138	chr14:67069515-67069516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8008550	chr14:67069575-67069576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs8008596	chr14:67069649-67069650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs555138211	chr14:67069705-67069706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111488912	chr14:67069719-67069720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79159774	chr14:67069727-67069728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146106444	chr14:67069735-67069736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80240146	chr14:67069760-67069761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563559669	chr14:67069790-67069791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577330743	chr14:67069796-67069797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546184321	chr14:67069839-67069840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74593510	chr14:67069850-67069851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528347913	chr14:67069857-67069858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74057208	chr14:67069859-67069860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373270621	chr14:67069907-67069908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545248720	chr14:67069908-67069909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188505200	chr14:67070038-67070039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549705757	chr14:67070067-67070068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80011530	chr14:67070080-67070081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111907336	chr14:67070095-67070096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538916117	chr14:67070096-67070097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563662520	chr14:67070099-67070100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575599115	chr14:67070125-67070126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570186059	chr14:67070152-67070153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539064542	chr14:67070221-67070222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370015632	chr14:67070258-67070259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200468141	chr14:67070262-67070263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546150243	chr14:67070265-67070266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566076001	chr14:67070306-67070307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10220297	chr14:67070319-67070320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs554896484	chr14:67070373-67070374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574952306	chr14:67070385-67070386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537219208	chr14:67070416-67070417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561606440	chr14:67070433-67070434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567871144	chr14:67070455-67070456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180886373	chr14:67070467-67070468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557442348	chr14:67070489-67070490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67067000-67069600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:67068400-67069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:67068400-67069800	Enhancers	Liver	Liver
4	chr14:67068600-67069000	Enhancers	Fetal Intestine Small	intestine
5	chr14:67068600-67069400	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:67068800-67069000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:67068800-67069200	Active TSS	GM12878-XiMat	blood
8	chr14:67069000-67069400	Enhancers	Stomach Mucosa	stomach
9	chr14:67069200-67069400	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:67069400-67069800	Enhancers	GM12878-XiMat	blood
11	chr14:67069400-67085000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:67069600-67073600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:67071600-67072000	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr14:67072000-67073600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:67073200-67074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67073400-67074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:67073600-67074200	Enhancers	Brain Hippocampus Middle	brain
18	chr14:67073600-67074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:67073800-67074400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:67077000-67077200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:67077000-67077200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:67077200-67077400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr14:67078000-67078600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:67079400-67081000	Enhancers	Liver	Liver
25	chr14:67083200-67084200	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr14:67083800-67084000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:67083800-67084000	Weak transcription	Gastric	stomach
28	chr14:67084000-67084200	ZNF genes & repeats	Gastric	stomach
29	chr14:67084000-67084400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:67084000-67090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:67084200-67085000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr14:67084200-67086600	Weak transcription	Gastric	stomach
33	chr14:67084400-67084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:67084400-67093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:67085000-67088400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:67086600-67087000	Enhancers	Gastric	stomach
37	chr14:67086600-67087400	Enhancers	HepG2	liver
38	chr14:67086800-67087000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:67087000-67087400	Enhancers	Liver	Liver
40	chr14:67087000-67106800	Weak transcription	Gastric	stomach
41	chr14:67087200-67110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:67087400-67090000	Weak transcription	Liver	Liver
43	chr14:67088400-67089000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:67088400-67089000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr14:67088400-67091000	Weak transcription	Brain Substantia Nigra	brain
46	chr14:67088800-67089000	Enhancers	Left Ventricle	heart
47	chr14:67088800-67089200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:67089000-67090200	Weak transcription	Left Ventricle	heart
49	chr14:67089200-67090200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:67090000-67090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links