Variant report

Variant	esv2755395
Chromosome Location	chr14:55125925-55149486
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55140368..55141999-chr14:55142683..55145090,2	K562	blood:
2	chr14:55123295..55127297-chr14:55131609..55134377,4	MCF-7	breast:
3	chr14:55044752..55047282-chr14:55147318..55149216,2	K562	blood:
4	chr14:55123295..55127297-chr14:55131609..55134377,4	MCF-7	breast:
5	chr14:55031040..55033612-chr14:55148367..55150806,3	MCF-7	breast:
6	chr14:55128710..55133148-chr14:55134666..55138375,4	MCF-7	breast:
7	chr14:55135659..55139164-chr14:55139185..55142242,3	K562	blood:
8	chr14:55030590..55035325-chr14:55125612..55127747,4	MCF-7	breast:
9	chr14:55140112..55141915-chr14:55141999..55144824,2	MCF-7	breast:
10	chr14:55127237..55129657-chr14:55154161..55156958,2	MCF-7	breast:
11	chr14:55144736..55146279-chr14:55149404..55151933,2	MCF-7	breast:
12	chr14:55131231..55133350-chr14:55238338..55241273,2	K562	blood:
13	chr14:55133143..55136599-chr14:55143389..55146746,3	MCF-7	breast:
14	chr14:55125524..55127369-chr14:55129748..55131714,2	MCF-7	breast:
15	chr14:55148272..55150331-chr14:55152656..55154478,2	K562	blood:
16	chr14:55041072..55043932-chr14:55123792..55126617,2	MCF-7	breast:
17	chr14:55128710..55133148-chr14:55134666..55138375,4	MCF-7	breast:
18	chr14:55131030..55132731-chr14:55239773..55242062,2	K562	blood:
19	chr14:55140112..55141915-chr14:55141999..55144824,2	MCF-7	breast:
20	chr14:55122538..55124044-chr14:55126253..55128452,2	MCF-7	breast:
21	chr14:55112933..55122073-chr14:55122136..55129636,16	MCF-7	breast:
22	chr14:55125925..55127588-chr14:55158013..55160688,2	MCF-7	breast:
23	chr14:55032048..55033777-chr14:55147978..55150274,2	MCF-7	breast:
24	chr14:55131307..55133874-chr14:55141456..55144364,3	MCF-7	breast:
25	chr14:55131258..55133597-chr14:55240050..55242615,2	MCF-7	breast:
26	chr14:55140368..55141999-chr14:55142683..55145090,2	K562	blood:
27	chr14:55140707..55142608-chr14:55144195..55146266,2	K562	blood:
28	chr14:55145858..55147827-chr14:55158214..55161062,2	K562	blood:
29	chr14:55125524..55127369-chr14:55129748..55131714,2	MCF-7	breast:
30	chr14:55140196..55140744-chr14:55158139..55158942,2	MCF-7	breast:
31	chr14:55123104..55125595-chr14:55126892..55129709,3	K562	blood:
32	chr14:55121459..55123514-chr14:55126031..55127873,3	MCF-7	breast:
33	chr14:55134327..55137247-chr14:55150463..55152044,2	K562	blood:
34	chr14:55131307..55133874-chr14:55141456..55144364,3	MCF-7	breast:
35	chr14:55031224..55035117-chr14:55130293..55133965,6	MCF-7	breast:
36	chr14:55146026..55147611-chr14:55151215..55153598,2	K562	blood:
37	chr14:55140902..55144025-chr14:55156540..55160484,3	K562	blood:
38	chr14:55144736..55146279-chr14:55149404..55151933,2	MCF-7	breast:
39	chr14:55031817..55033363-chr14:55124970..55127115,2	MCF-7	breast:
40	chr14:55032575..55034843-chr14:55129879..55133964,4	MCF-7	breast:
41	chr14:55133143..55136599-chr14:55143389..55146746,3	MCF-7	breast:
42	chr14:55140707..55142608-chr14:55144195..55146266,2	K562	blood:
43	chr14:55135659..55139164-chr14:55139185..55142242,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000020577	chromatin interactions

Extended variants
information (count: 880 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7155089	chr14:55125925-55125926	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190797260	chr14:55125963-55125964	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182950060	chr14:55126027-55126028	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528164885	chr14:55126040-55126041	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575046501	chr14:55126080-55126081	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150880500	chr14:55126107-55126108	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs911622	chr14:55126129-55126130	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115488709	chr14:55126144-55126145	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576076515	chr14:55126161-55126162	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560760398	chr14:55126170-55126171	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574263171	chr14:55126174-55126175	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78243846	chr14:55126214-55126215	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76144886	chr14:55126247-55126248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370067581	chr14:55126302-55126303	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561954894	chr14:55126488-55126489	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530598974	chr14:55126505-55126506	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540887232	chr14:55126542-55126543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550509936	chr14:55126614-55126615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9806117	chr14:55126622-55126623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148406564	chr14:55126623-55126624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12590927	chr14:55126703-55126704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373034934	chr14:55126716-55126717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531011095	chr14:55126745-55126746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552623461	chr14:55126754-55126755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570822702	chr14:55126785-55126786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140967664	chr14:55126790-55126791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75134284	chr14:55126801-55126802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111340089	chr14:55126803-55126804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs59793891	chr14:55126813-55126814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535709035	chr14:55126814-55126815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8022597	chr14:55126850-55126851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143424842	chr14:55126866-55126867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554742956	chr14:55126903-55126904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537115321	chr14:55126904-55126905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558140100	chr14:55126935-55126936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576382799	chr14:55126944-55126945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199844038	chr14:55126957-55126958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192727011	chr14:55126966-55126967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574661964	chr14:55127008-55127009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537630981	chr14:55127040-55127041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184690468	chr14:55127051-55127052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376261916	chr14:55127078-55127079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113122417	chr14:55127101-55127102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187962752	chr14:55127103-55127104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141005696	chr14:55127133-55127134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546276309	chr14:55127183-55127184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191585311	chr14:55127208-55127209	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183723874	chr14:55127212-55127213	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189579025	chr14:55127216-55127217	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117871231	chr14:55127293-55127294	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55117600-55129400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55119000-55132400	Enhancers	HepG2	liver
3	chr14:55119800-55135800	Weak transcription	Fetal Brain Male	brain
4	chr14:55120000-55179400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:55120800-55137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:55121000-55138200	Weak transcription	Aorta	Aorta
7	chr14:55121200-55126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:55121400-55136400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55121600-55127200	Weak transcription	Brain Anterior Caudate	brain
10	chr14:55121600-55129400	Weak transcription	Fetal Stomach	stomach
11	chr14:55121600-55129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:55121800-55128400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:55121800-55135600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:55121800-55135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:55121800-55135800	Weak transcription	NH-A	brain
16	chr14:55122000-55126400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:55122000-55126600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:55122000-55127200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:55122000-55127200	Weak transcription	HSMMtube	muscle
20	chr14:55122000-55131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:55122000-55134000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:55122000-55134200	Weak transcription	NHLF	lung
23	chr14:55122000-55136200	Weak transcription	Osteobl	bone
24	chr14:55122200-55131200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:55122200-55133800	Weak transcription	NHDF-Ad	bronchial
26	chr14:55122200-55136000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:55124000-55127400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:55124200-55127400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:55124400-55127200	Enhancers	HUVEC	blood vessel
30	chr14:55124400-55127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:55124400-55127600	Enhancers	Left Ventricle	heart
32	chr14:55124400-55127600	Enhancers	HMEC	breast
33	chr14:55124600-55127400	Enhancers	NHEK	skin
34	chr14:55124800-55128800	Enhancers	Fetal Heart	heart
35	chr14:55124800-55129800	Enhancers	Fetal Muscle Leg	muscle
36	chr14:55124800-55134200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:55125000-55127400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:55125000-55129400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:55125200-55126000	Enhancers	Colon Smooth Muscle	Colon
40	chr14:55125200-55126200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:55125200-55126200	Enhancers	Spleen	Spleen
42	chr14:55125200-55126600	Enhancers	Right Atrium	heart
43	chr14:55125200-55127400	Enhancers	Psoas Muscle	Psoas
44	chr14:55125200-55128400	Enhancers	Right Ventricle	heart
45	chr14:55125200-55129800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:55125400-55126000	Enhancers	Placenta	Placenta
47	chr14:55125400-55126200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:55125400-55126200	Enhancers	Adipose Nuclei	Adipose
49	chr14:55125400-55126600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:55125400-55127600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links