Variant report

Variant	esv3364668
Chromosome Location	chr14:85596248-85613282
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:85611226..85611727-chr17:41463821..41464360,2	HCT-116	colon:
2	chr14:85611227..85612747-chr17:41464225..41466390,2	K562	blood:
3	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
4	chr11:62607627..62609150-chr14:85611227..85612747,2	K562	blood:
5	chr14:85609727..85612747-chr17:41464783..41468587,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-6	chr14:85606972-85607064	l_1023_chr14:85606971-85664205_whiteBloodCell

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575537733	chr14:85596272-85596273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546063584	chr14:85596273-85596274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192063820	chr14:85596317-85596318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545762686	chr14:85596319-85596320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141207865	chr14:85596322-85596323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540350968	chr14:85596340-85596341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184708668	chr14:85596367-85596368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528924390	chr14:85596369-85596370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543872731	chr14:85596437-85596438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562420669	chr14:85596476-85596477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533287121	chr14:85596518-85596519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10498579	chr14:85596579-85596580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575665702	chr14:85596639-85596640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543008190	chr14:85596662-85596663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561195863	chr14:85596733-85596734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187117235	chr14:85596784-85596785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192726164	chr14:85596839-85596840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547115571	chr14:85596855-85596856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184272171	chr14:85596935-85596936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77708815	chr14:85596964-85596965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557102121	chr14:85596975-85596976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568880946	chr14:85597006-85597007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539778830	chr14:85597007-85597008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558007588	chr14:85597017-85597018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573149706	chr14:85597030-85597031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540461872	chr14:85597069-85597070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555886891	chr14:85597089-85597090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143516224	chr14:85597122-85597123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189272102	chr14:85597212-85597213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562483598	chr14:85597237-85597238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28571174	chr14:85597243-85597244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545347858	chr14:85597293-85597294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560464344	chr14:85597363-85597364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150928878	chr14:85597383-85597384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111956657	chr14:85597421-85597422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376709496	chr14:85597434-85597435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369864338	chr14:85597437-85597438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548910467	chr14:85597439-85597440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116026492	chr14:85597442-85597443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114704713	chr14:85597449-85597450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367970766	chr14:85597536-85597537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140749875	chr14:85597539-85597540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182259657	chr14:85597553-85597554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118117185	chr14:85597602-85597603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75380602	chr14:85597643-85597644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150089257	chr14:85597663-85597664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528599804	chr14:85597665-85597666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534456386	chr14:85597729-85597730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61980984	chr14:85597742-85597743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555704571	chr14:85597790-85597791	Enhancers	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85591400-85597000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:85591800-85597400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:85592000-85597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:85592000-85597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:85595200-85598200	Enhancers	Ovary	ovary
6	chr14:85595400-85597400	Enhancers	Fetal Stomach	stomach
7	chr14:85595600-85597000	Weak transcription	Stomach Mucosa	stomach
8	chr14:85596200-85596800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:85596400-85597000	Weak transcription	Pancreas	Pancrea
10	chr14:85596800-85597200	Enhancers	Liver	Liver
11	chr14:85596800-85597600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:85596800-85598000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:85596800-85598000	Enhancers	NHEK	skin
14	chr14:85597000-85597200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:85597000-85597200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:85597000-85597200	Enhancers	Fetal Intestine Small	intestine
17	chr14:85597000-85597400	Enhancers	Stomach Mucosa	stomach
18	chr14:85597000-85598000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:85597000-85598000	Enhancers	Pancreas	Pancrea
20	chr14:85597200-85597600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:85597400-85597600	Weak transcription	Stomach Mucosa	stomach
22	chr14:85597400-85598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:85597400-85598000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:85597400-85598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:85597400-85598200	Enhancers	HMEC	breast
26	chr14:85597600-85598000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:85597600-85598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:85597600-85598000	Enhancers	Stomach Mucosa	stomach
29	chr14:85597800-85598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:85609400-85611400	Enhancers	Fetal Intestine Small	intestine
31	chr14:85611400-85615000	Weak transcription	Fetal Intestine Small	intestine

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