Variant report

Variant	esv2647291
Chromosome Location	chr14:21777643-21779085
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	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
2	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:
3	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
4	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
5	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
6	chr14:21776722..21779782-chr14:21780222..21783756,4	K562	blood:
7	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
8	chr14:21776722..21779291-chr14:21780222..21782831,3	K562	blood:
9	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
10	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
11	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
12	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
13	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
14	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
15	chr14:21777189..21779079-chr14:21786297..21788417,2	MCF-7	breast:
16	chr14:21777230..21779351-chr14:21782852..21785830,2	MCF-7	breast:
17	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
18	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
19	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
20	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
21	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260830	chromatin interactions
ENSG00000092201	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000258441	chromatin interactions
ENSG00000092200	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12433693	chr14:21777646-21777647	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193274351	chr14:21777648-21777649	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564909563	chr14:21777667-21777668	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs77190401	chr14:21777672-21777673	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs12433536	chr14:21777712-21777713	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111246031	chr14:21777724-21777725	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs558322375	chr14:21777815-21777816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs527264419	chr14:21777832-21777833	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs35281879	chr14:21777859-21777860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs10152068	chr14:21777901-21777902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs184173407	chr14:21777903-21777904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs34663691	chr14:21777946-21777947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs146224548	chr14:21777993-21777994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs398117962	chr14:21778002-21778003	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs76831988	chr14:21778003-21778004	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs201016898	chr14:21778004-21778005	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs61977481	chr14:21778006-21778007	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs140456392	chr14:21778028-21778029	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs568040628	chr14:21778065-21778066	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs376008791	chr14:21778078-21778079	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs200920456	chr14:21778098-21778099	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs202192625	chr14:21778099-21778100	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs34213128	chr14:21778100-21778101	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs3064199	chr14:21778101-21778102	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs66526042	chr14:21778187-21778188	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs143605235	chr14:21778204-21778205	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs577405670	chr14:21778351-21778352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs200017511	chr14:21778398-21778399	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs201361696	chr14:21778400-21778401	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201960086	chr14:21778401-21778402	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs200994615	chr14:21778409-21778410	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs563053261	chr14:21778425-21778426	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs576844656	chr14:21778432-21778433	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs542475847	chr14:21778471-21778472	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs560744054	chr14:21778488-21778489	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs34870837	chr14:21778503-21778504	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs147970485	chr14:21778544-21778545	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs1957413	chr14:21778588-21778589	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs188969029	chr14:21778598-21778599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs28608955	chr14:21778599-21778600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373013143	chr14:21778710-21778711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs72160728	chr14:21778718-21778719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs398099213	chr14:21778727-21778728	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568675254	chr14:21778732-21778733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377350887	chr14:21778738-21778739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200168103	chr14:21778743-21778744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568372341	chr14:21778748-21778749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150107283	chr14:21778769-21778770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373627836	chr14:21778778-21778779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1957414	chr14:21778792-21778793	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21776400-21777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:21776400-21777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:21776800-21777800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:21776800-21777800	Enhancers	Spleen	Spleen
5	chr14:21777000-21777800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:21777000-21777800	Active TSS	Duodenum Mucosa	Duodenum
7	chr14:21777200-21777800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr14:21777200-21777800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr14:21777200-21777800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:21777200-21777800	Flanking Active TSS	NHEK	skin
11	chr14:21777200-21778000	Flanking Active TSS	K562	blood
12	chr14:21777400-21777800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:21777400-21777800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr14:21777400-21777800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:21777400-21777800	Flanking Active TSS	A549	lung
16	chr14:21777400-21778000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:21777600-21777800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:21777600-21777800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:21777600-21777800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:21777600-21777800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:21777600-21777800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:21777600-21777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:21777600-21777800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:21777600-21777800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr14:21777600-21777800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:21777600-21777800	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:21777600-21777800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:21777600-21777800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:21777600-21777800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:21777600-21777800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:21777600-21777800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:21777600-21777800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:21777600-21777800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:21777600-21777800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:21777600-21777800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:21777600-21777800	Enhancers	Fetal Intestine Small	intestine
37	chr14:21777600-21777800	Enhancers	Fetal Thymus	thymus
38	chr14:21777600-21777800	Enhancers	Thymus	Thymus
39	chr14:21777600-21778000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:21777600-21778000	Enhancers	Primary B cells from cord blood	blood
41	chr14:21777600-21778000	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:21777600-21778000	Enhancers	Primary T cells from cord blood	blood
43	chr14:21777600-21778000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:21777600-21778000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:21777600-21778000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:21777600-21778000	Enhancers	GM12878-XiMat	blood
47	chr14:21777600-21778000	Enhancers	HepG2	liver
48	chr14:21777600-21778200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:21777600-21779000	Weak transcription	Small Intestine	intestine
50	chr14:21777600-21781600	Weak transcription	Fetal Intestine Large	intestine

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