Variant report

Variant	esv3350301
Chromosome Location	chr10:43140755-43150235
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43137680..43139181-chr10:43140744..43142599,2	MCF-7	breast:
2	chr10:43144117..43146746-chr10:43147930..43151042,3	K562	blood:
3	chr10:43148790..43150722-chr10:43156364..43159356,2	K562	blood:
4	chr10:43147543..43150157-chr10:43264028..43266927,2	K562	blood:
5	chr10:43139593..43142525-chr10:43154895..43157276,2	K562	blood:
6	chr10:43137709..43140155-chr10:43140411..43142301,2	MCF-7	breast:
7	chr10:43139793..43143653-chr10:43148005..43150962,3	K562	blood:
8	chr10:43131361..43135006-chr10:43140847..43143635,4	MCF-7	breast:
9	chr10:43138716..43141468-chr17:62493322..62496242,2	MCF-7	breast:
10	chr10:43133569..43135388-chr10:43147096..43149467,2	K562	blood:
11	chr10:43141512..43143238-chr10:43157022..43158551,2	MCF-7	breast:
12	chr10:43144117..43146746-chr10:43147930..43151042,3	K562	blood:
13	chr10:43144345..43147006-chr21:15489906..15492564,2	K562	blood:
14	chr10:43139793..43143653-chr10:43148005..43150962,3	K562	blood:
15	chr10:43132537..43136859-chr10:43137751..43144882,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272373	chromatin interactions
ENSG00000232109	chromatin interactions
ENSG00000196693	chromatin interactions

Extended variants
information (count: 406 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147094631	chr10:43140802-43140803	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs549070241	chr10:43140847-43140848	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567344799	chr10:43140854-43140855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528226976	chr10:43140860-43140861	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370678845	chr10:43140870-43140871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571469932	chr10:43140878-43140879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538511796	chr10:43140896-43140897	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188655938	chr10:43140903-43140904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs148148317	chr10:43140937-43140938	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs59242133	chr10:43140975-43140976	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554572296	chr10:43140976-43140977	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs572987108	chr10:43141074-43141075	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534349056	chr10:43141099-43141100	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs141939464	chr10:43141100-43141101	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs577376821	chr10:43141126-43141127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112606110	chr10:43141148-43141149	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs7087377	chr10:43141154-43141155	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150704156	chr10:43141162-43141163	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542627008	chr10:43141167-43141168	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560904284	chr10:43141169-43141170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs193267336	chr10:43141175-43141176	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549990806	chr10:43141199-43141200	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs546679952	chr10:43141202-43141203	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs570217500	chr10:43141209-43141210	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs158389	chr10:43141235-43141236	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs377086534	chr10:43141305-43141306	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs7078028	chr10:43141311-43141312	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35254317	chr10:43141320-43141321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559226317	chr10:43141331-43141332	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs138918597	chr10:43141403-43141404	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs536176976	chr10:43141409-43141410	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183476267	chr10:43141414-43141415	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs566198485	chr10:43141420-43141421	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs141538552	chr10:43141470-43141471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs7101078	chr10:43141485-43141486	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146172362	chr10:43141497-43141498	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs534614544	chr10:43141519-43141520	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554598162	chr10:43141521-43141522	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs532011561	chr10:43141547-43141548	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs139223119	chr10:43141569-43141570	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538410789	chr10:43141572-43141573	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547834741	chr10:43141593-43141594	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371853960	chr10:43141596-43141597	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs71505632	chr10:43141637-43141638	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs186672836	chr10:43141646-43141647	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs575174506	chr10:43141659-43141660	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs73266674	chr10:43141671-43141672	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372074396	chr10:43141673-43141674	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191678431	chr10:43141789-43141790	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs111872720	chr10:43141844-43141845	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43134400-43141600	Weak transcription	Gastric	stomach
2	chr10:43134600-43142200	Weak transcription	Aorta	Aorta
3	chr10:43134800-43141600	Weak transcription	Fetal Kidney	kidney
4	chr10:43134800-43143200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:43135200-43141800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:43135200-43145600	Weak transcription	Primary T cells from cord blood	blood
7	chr10:43137200-43141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:43137200-43142000	Weak transcription	NHEK	skin
9	chr10:43137600-43142000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:43139400-43144400	Enhancers	Fetal Intestine Small	intestine
11	chr10:43139600-43143000	Enhancers	Fetal Intestine Large	intestine
12	chr10:43140000-43141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:43140000-43141800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:43140000-43141800	Enhancers	Stomach Mucosa	stomach
15	chr10:43140000-43143000	Enhancers	Placenta	Placenta
16	chr10:43140000-43143600	Enhancers	Pancreas	Pancrea
17	chr10:43140200-43141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:43140200-43142000	Enhancers	Primary hematopoietic stem cells	blood
19	chr10:43140200-43142600	Enhancers	Duodenum Mucosa	Duodenum
20	chr10:43140400-43140800	Active TSS	K562	blood
21	chr10:43140400-43141000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:43140400-43141600	Enhancers	HepG2	liver
23	chr10:43140800-43143000	Flanking Active TSS	K562	blood
24	chr10:43141000-43141600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:43141000-43142600	Enhancers	Esophagus	oesophagus
26	chr10:43141000-43143000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr10:43141200-43141400	Enhancers	HUVEC	blood vessel
28	chr10:43141600-43142200	Enhancers	Gastric	stomach
29	chr10:43141600-43142600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:43141600-43143400	Enhancers	Fetal Kidney	kidney
31	chr10:43141600-43145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:43141800-43142400	Flanking Active TSS	Stomach Mucosa	stomach
33	chr10:43141800-43142600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:43141800-43142600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:43141800-43145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:43142000-43142600	Enhancers	NHEK	skin
37	chr10:43142000-43142800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:43142000-43145600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr10:43142200-43142400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr10:43142200-43142600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:43142400-43142800	Enhancers	Stomach Mucosa	stomach
42	chr10:43142600-43147000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:43142800-43147200	Weak transcription	Stomach Mucosa	stomach
44	chr10:43143000-43146000	Weak transcription	Fetal Intestine Large	intestine
45	chr10:43143000-43148600	Enhancers	K562	blood
46	chr10:43143400-43148200	Weak transcription	Fetal Kidney	kidney
47	chr10:43143600-43144800	Weak transcription	Pancreas	Pancrea
48	chr10:43144400-43146000	Weak transcription	Fetal Intestine Small	intestine
49	chr10:43144800-43145400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:43144800-43145400	Enhancers	Pancreas	Pancrea

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