Variant report

Variant	esv2761827
Chromosome Location	chr14:40559596-40816236
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40681513..40685602-chr14:40687253..40690509,3	MCF-7	breast:
2	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
3	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:
4	chr14:40691066..40691614-chr14:40740770..40741278,2	MCF-7	breast:
5	chr14:40721840..40722668-chr15:81828412..81828932,3	MCF-7	breast:
6	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
7	chr14:40762742..40765094-chr14:40766225..40768679,2	K562	blood:
8	chr14:40457857..40458829-chr14:40749466..40750494,4	MCF-7	breast:
9	chr14:40690264..40692278-chr14:40698670..40700192,2	MCF-7	breast:
10	chr14:40676693..40679058-chr14:40690330..40692454,2	MCF-7	breast:
11	chr14:40676693..40679058-chr14:40690330..40692454,2	MCF-7	breast:
12	chr14:40669052..40670615-chr14:40680616..40683029,2	MCF-7	breast:
13	chr14:40681513..40685602-chr14:40687253..40690509,3	MCF-7	breast:
14	chr14:40691066..40691614-chr14:40740770..40741278,2	MCF-7	breast:
15	chr14:40762742..40765094-chr14:40766225..40768679,2	K562	blood:
16	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:
17	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
18	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
19	chr14:40690264..40692278-chr14:40698670..40700192,2	MCF-7	breast:
20	chr14:40672645..40675183-chr14:40686858..40690836,3	MCF-7	breast:
21	chr14:40665163..40668021-chr14:40668586..40671186,2	MCF-7	breast:
22	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
23	chr14:40672645..40675183-chr14:40686858..40690836,3	MCF-7	breast:
24	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
25	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
26	chr14:40653379..40656063-chr14:40662634..40665272,2	MCF-7	breast:

No data

Extended variants
information (count: 2279 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2279 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576573198	chr14:40566404-40566405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537528183	chr14:40566426-40566427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538887575	chr14:40566427-40566428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186079964	chr14:40566438-40566439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572415293	chr14:40566444-40566445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146436703	chr14:40566470-40566471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560900582	chr14:40566475-40566476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529182849	chr14:40566489-40566490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550804730	chr14:40566511-40566512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71130880	chr14:40566523-40566524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574046625	chr14:40566524-40566525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71130881	chr14:40566554-40566555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8019403	chr14:40566573-40566574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374546884	chr14:40566580-40566581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8019316	chr14:40566636-40566637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs118063228	chr14:40566644-40566645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17196	chr14:40566655-40566656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559524333	chr14:40566727-40566728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528147990	chr14:40566741-40566742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8020777	chr14:40566754-40566755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189620942	chr14:40566777-40566778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568051921	chr14:40566830-40566831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571449328	chr14:40566869-40566870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182695783	chr14:40566894-40566895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537087997	chr14:40566901-40566902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550425018	chr14:40566961-40566962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374317851	chr14:40566991-40566992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186969556	chr14:40567050-40567051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113985663	chr14:40567051-40567052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558854697	chr14:40567082-40567083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572602507	chr14:40567087-40567088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573542767	chr14:40567133-40567134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111933700	chr14:40567173-40567174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553784670	chr14:40567183-40567184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573234755	chr14:40567222-40567223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368571594	chr14:40567256-40567257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112790111	chr14:40567309-40567310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs724441	chr14:40567324-40567325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543446340	chr14:40567336-40567337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200498772	chr14:40567343-40567344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5808063	chr14:40567345-40567346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398077708	chr14:40567348-40567349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397757415	chr14:40567349-40567350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200641215	chr14:40567350-40567351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563720246	chr14:40567357-40567358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183238621	chr14:40567387-40567388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539051676	chr14:40567403-40567404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559067085	chr14:40567436-40567437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577037492	chr14:40567446-40567447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557633838	chr14:40567458-40567459	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	22102821	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40566400-40567200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr14:40566400-40567600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:40568200-40569000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:40582400-40583600	Enhancers	HepG2	liver
5	chr14:40582600-40583400	Enhancers	Liver	Liver
6	chr14:40588600-40589000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:40588600-40589800	Enhancers	GM12878-XiMat	blood
8	chr14:40588800-40589400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:40588800-40590000	Enhancers	Colon Smooth Muscle	Colon
10	chr14:40589000-40593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:40589400-40589800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:40589800-40590000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:40589800-40590000	Enhancers	Fetal Kidney	kidney
14	chr14:40589800-40592400	Weak transcription	GM12878-XiMat	blood
15	chr14:40590000-40591800	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:40590000-40592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:40590200-40591200	Weak transcription	Fetal Kidney	kidney
18	chr14:40591000-40593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:40591200-40594000	Enhancers	Fetal Kidney	kidney
20	chr14:40591400-40593400	Enhancers	Brain Germinal Matrix	brain
21	chr14:40591800-40593800	Enhancers	Colon Smooth Muscle	Colon
22	chr14:40592000-40592200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:40592000-40592200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:40592000-40592200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:40592000-40592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:40592200-40592600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:40592200-40592600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:40592200-40592600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:40592200-40592600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:40592200-40592600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:40592200-40592800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:40592400-40592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:40592400-40592800	Flanking Active TSS	GM12878-XiMat	blood
34	chr14:40592400-40593400	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:40592600-40592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:40592600-40592800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:40592600-40593000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:40592800-40593400	Enhancers	GM12878-XiMat	blood
39	chr14:40593000-40593400	Enhancers	Fetal Intestine Small	intestine
40	chr14:40624000-40624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:40630200-40634600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:40631400-40632400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:40633200-40633600	Active TSS	HSMM	muscle
44	chr14:40637400-40638000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:40638000-40638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:40638800-40639000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:40639000-40639200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:40639200-40639400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:40639400-40640000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:40672800-40674000	Enhancers	Fetal Muscle Leg	muscle

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