Variant report

Variant	esv3411274
Chromosome Location	chr14:31442250-31460681
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31449675..31451460-chr14:31453567..31455215,2	K562	blood:
2	chr14:31458519..31461343-chr14:31465487..31467458,2	K562	blood:
3	chr14:31454381..31456866-chr14:31494760..31497508,2	MCF-7	breast:
4	chr14:31449675..31451460-chr14:31453567..31455215,2	K562	blood:
5	chr14:31453719..31455508-chr14:31466401..31468964,2	MCF-7	breast:
6	chr14:31449454..31450003-chr14:31549329..31550277,2	MCF-7	breast:
7	chr14:31454546..31456657-chr14:31675532..31677690,2	K562	blood:
8	chr14:31449089..31449999-chr14:31550935..31551485,3	K562	blood:
9	chr14:31454676..31457967-chr14:31492507..31496946,4	MCF-7	breast:
10	chr14:31457071..31460059-chr14:31491796..31493863,2	MCF-7	breast:
11	chr14:31442796..31445236-chr14:31495645..31497455,2	MCF-7	breast:
12	chr14:31450203..31451782-chr14:31545197..31546790,2	K562	blood:
13	chr14:31458647..31460710-chr14:31463564..31465601,2	K562	blood:
14	chr14:31449482..31451358-chr14:31494020..31496170,2	MCF-7	breast:
15	chr14:31444951..31447153-chr14:31557312..31559493,2	MCF-7	breast:
16	chr14:31449072..31450058-chr14:31550875..31551908,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196792	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000092148	chromatin interactions

Extended variants
information (count: 713 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556748363	chr14:31442292-31442293	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs578172913	chr14:31442304-31442305	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142715110	chr14:31442342-31442343	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150620341	chr14:31442363-31442364	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200468553	chr14:31442471-31442472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398024688	chr14:31442480-31442481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202239868	chr14:31442481-31442482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377099755	chr14:31442505-31442506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76291613	chr14:31442566-31442567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375402548	chr14:31442575-31442576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541431894	chr14:31442578-31442579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563414715	chr14:31442591-31442592	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542219928	chr14:31442706-31442707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560794576	chr14:31442724-31442725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531451352	chr14:31442740-31442741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370524020	chr14:31442755-31442756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574981690	chr14:31442778-31442779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549694635	chr14:31442790-31442791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139739294	chr14:31442808-31442809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs55804417	chr14:31442844-31442845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547673358	chr14:31442857-31442858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78753454	chr14:31442882-31442883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs58379576	chr14:31442883-31442884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555812010	chr14:31442884-31442885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567636011	chr14:31442898-31442899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538362313	chr14:31442964-31442965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556479912	chr14:31443044-31443045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578155470	chr14:31443131-31443132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144774282	chr14:31443148-31443149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184802463	chr14:31443181-31443182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554000021	chr14:31443187-31443188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75265019	chr14:31443299-31443300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542183634	chr14:31443390-31443391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10145876	chr14:31443408-31443409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113325676	chr14:31443446-31443447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145652780	chr14:31443480-31443481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12587420	chr14:31443491-31443492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532298212	chr14:31443492-31443493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547267282	chr14:31443510-31443511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547634384	chr14:31443516-31443517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs118090003	chr14:31443520-31443521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528410369	chr14:31443548-31443549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549083674	chr14:31443613-31443614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60006618	chr14:31443614-31443615	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140123900	chr14:31443640-31443641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546883346	chr14:31443658-31443659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34305904	chr14:31443717-31443718	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561789062	chr14:31443766-31443767	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375812840	chr14:31443813-31443814	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555346619	chr14:31443820-31443821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
4	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:31436400-31442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:31436400-31442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:31436400-31457200	Weak transcription	HSMM	muscle
19	chr14:31436400-31457800	Weak transcription	NHEK	skin
20	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:31437400-31443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:31439000-31444400	Enhancers	HepG2	liver
24	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
25	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:31439800-31442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:31439800-31443400	Weak transcription	GM12878-XiMat	blood
28	chr14:31440000-31442800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:31440200-31442800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:31440200-31444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:31440400-31442800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:31440400-31442800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:31440400-31444200	Weak transcription	Psoas Muscle	Psoas
35	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
37	chr14:31441000-31443000	Enhancers	Stomach Mucosa	stomach
38	chr14:31441000-31443200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:31441000-31443200	Weak transcription	Brain Substantia Nigra	brain
40	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:31441200-31457400	Weak transcription	NH-A	brain
43	chr14:31441400-31442400	Enhancers	Esophagus	oesophagus
44	chr14:31441400-31442400	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr14:31441400-31442400	Enhancers	Left Ventricle	heart
46	chr14:31441400-31443000	Enhancers	Small Intestine	intestine
47	chr14:31441600-31442800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:31441600-31442800	Weak transcription	Brain Anterior Caudate	brain
49	chr14:31441600-31442800	Weak transcription	A549	lung
50	chr14:31441600-31443000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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