Variant report

Variant	esv3441767
Chromosome Location	chr10:42736471-42739319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42739123..42739644-chr10:101379768..101380454,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-7	chr10:42737930-42738014	NONHSAT012859

Variant related genes	Relation type
ENSG00000155287	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558035203	chr10:42736477-42736478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571423684	chr10:42736509-42736510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193170522	chr10:42736521-42736522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553720085	chr10:42736525-42736526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185444046	chr10:42736528-42736529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188965830	chr10:42736561-42736562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556253142	chr10:42736564-42736565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11238568	chr10:42736580-42736581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183589663	chr10:42736595-42736596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544647797	chr10:42736648-42736649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564814435	chr10:42736649-42736650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533489333	chr10:42736656-42736657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540898378	chr10:42736657-42736658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560363540	chr10:42736727-42736728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188330476	chr10:42736797-42736798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9326503	chr10:42736817-42736818	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs181033592	chr10:42736818-42736819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560354214	chr10:42736824-42736825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9326504	chr10:42736864-42736865	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs9326505	chr10:42736867-42736868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs533887303	chr10:42736919-42736920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112041736	chr10:42736941-42736942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567478118	chr10:42736953-42736954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188841069	chr10:42736964-42736965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181754731	chr10:42736966-42736967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199977366	chr10:42736992-42736993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200964915	chr10:42736995-42736996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202048525	chr10:42737002-42737003	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs576168914	chr10:42737015-42737016	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs200168362	chr10:42737030-42737031	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs545070303	chr10:42737037-42737038	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs369549340	chr10:42737078-42737079	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs558294232	chr10:42737086-42737087	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs572005884	chr10:42737107-42737108	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs531928348	chr10:42737172-42737173	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs540612514	chr10:42737177-42737178	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs560334524	chr10:42737179-42737180	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs186923625	chr10:42737187-42737188	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs149432514	chr10:42737210-42737211	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs192260206	chr10:42737212-42737213	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs112874016	chr10:42737222-42737223	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs79121305	chr10:42737226-42737227	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs376121858	chr10:42737236-42737237	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs143576837	chr10:42737245-42737246	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs185131196	chr10:42737263-42737264	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs112837821	chr10:42737290-42737291	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs56050863	chr10:42737298-42737299	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs398054300	chr10:42737306-42737307	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs113231066	chr10:42737315-42737316	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs531748462	chr10:42737321-42737322	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21509527	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
Obesity	20622171	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
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42732400-42742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:42736600-42737000	Weak transcription	HSMMtube	muscle
3	chr10:42737000-42737200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr10:42737000-42737200	Active TSS	HSMM	muscle
5	chr10:42737000-42737400	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:42737000-42737400	Active TSS	HMEC	breast
7	chr10:42737000-42737400	ZNF genes & repeats	HSMMtube	muscle
8	chr10:42737000-42737400	Bivalent Enhancer	NHEK	skin
9	chr10:42737000-42737600	Enhancers	Osteobl	bone
10	chr10:42737000-42738400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:42737000-42738400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:42737200-42737400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr10:42737200-42737400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr10:42737200-42737400	Enhancers	Brain Substantia Nigra	brain
15	chr10:42737200-42737400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr10:42737200-42737400	Flanking Active TSS	HSMM	muscle
17	chr10:42737200-42737400	ZNF genes & repeats	NH-A	brain
18	chr10:42737200-42737600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr10:42737200-42738200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr10:42737400-42738000	Weak transcription	HSMM	muscle
21	chr10:42737400-42739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:42737600-42738000	Active TSS	Esophagus	oesophagus
25	chr10:42737600-42738000	Active TSS	Pancreas	Pancrea
26	chr10:42737600-42738000	Bivalent/Poised TSS	Right Ventricle	heart
27	chr10:42737600-42738000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr10:42737600-42738400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:42737600-42738400	Active TSS	Colon Smooth Muscle	Colon
30	chr10:42737600-42738800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:42737600-42739200	Active TSS	Ovary	ovary
32	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:42737800-42739200	Active TSS	Aorta	Aorta
35	chr10:42737800-42739200	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr10:42737800-42739200	Active TSS	Right Atrium	heart
37	chr10:42738000-42738200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr10:42738000-42738200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:42738000-42738200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr10:42738000-42738200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
44	chr10:42738000-42738200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
47	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Lung	lung
48	chr10:42738000-42738200	Flanking Active TSS	Pancreas	Pancrea
49	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr10:42738000-42738200	ZNF genes & repeats	HSMM	muscle

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