Variant report

Variant	nsv947878
Chromosome Location	chr10:42738216-42772701
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	chr10:42673795..42674377-chr10:42765091..42765784,2	MCF-7	breast:
2	chr10:42739123..42739644-chr10:101379768..101380454,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-7	chr10:42746444-42746645	NONHSAT012859

Variant related genes	Relation type
ENSG00000155287	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536599938	chr10:42738217-42738218	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs556598454	chr10:42738219-42738220	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs7477801	chr10:42738244-42738245	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs377062704	chr10:42738256-42738257	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs538948864	chr10:42738264-42738265	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs192790151	chr10:42738300-42738301	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs7476148	chr10:42738325-42738326	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs146988569	chr10:42738366-42738367	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs370445302	chr10:42738367-42738368	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs60143425	chr10:42738369-42738370	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs150332353	chr10:42738370-42738371	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs56122457	chr10:42738375-42738376	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs572543728	chr10:42738393-42738394	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs144142284	chr10:42738405-42738406	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142750435	chr10:42738410-42738411	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113144245	chr10:42738415-42738416	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185280120	chr10:42738425-42738426	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190005326	chr10:42738427-42738428	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541577729	chr10:42738440-42738441	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181803032	chr10:42738449-42738450	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28499522	chr10:42738473-42738474	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188176396	chr10:42738540-42738541	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555061137	chr10:42738553-42738554	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371871386	chr10:42738620-42738621	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs373455402	chr10:42738659-42738660	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs377567382	chr10:42738660-42738661	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs180785153	chr10:42738671-42738672	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs528426023	chr10:42738674-42738675	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs185445813	chr10:42738676-42738677	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs367680288	chr10:42738689-42738690	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs191382186	chr10:42738691-42738692	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs71280901	chr10:42738699-42738700	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs183210628	chr10:42738704-42738705	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs186773323	chr10:42738743-42738744	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs191610756	chr10:42738744-42738745	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs183102339	chr10:42738749-42738750	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs187687534	chr10:42738835-42738836	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192651641	chr10:42738838-42738839	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs182180848	chr10:42738839-42738840	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187780570	chr10:42738856-42738857	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574889976	chr10:42738860-42738861	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192823336	chr10:42738893-42738894	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200474885	chr10:42738907-42738908	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113355744	chr10:42738914-42738915	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370225923	chr10:42738927-42738928	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574088469	chr10:42738972-42738973	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs139125240	chr10:42738979-42738980	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147844831	chr10:42738994-42738995	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113674095	chr10:42738997-42738998	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145141094	chr10:42739014-42739015	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42732400-42742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:42737000-42738400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:42737000-42738400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:42737400-42739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:42737600-42738400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:42737600-42738400	Active TSS	Colon Smooth Muscle	Colon
7	chr10:42737600-42738800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:42737600-42739200	Active TSS	Ovary	ovary
9	chr10:42737800-42739200	Active TSS	Aorta	Aorta
10	chr10:42737800-42739200	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr10:42737800-42739200	Active TSS	Right Atrium	heart
12	chr10:42738000-42738400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:42738000-42738400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr10:42738000-42738400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr10:42738000-42738400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr10:42738000-42739000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr10:42738000-42739000	Bivalent Enhancer	Placenta	Placenta
18	chr10:42738000-42739000	Bivalent/Poised TSS	A549	lung
19	chr10:42738000-42739200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:42738200-42738400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr10:42738200-42738400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:42738200-42738400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr10:42738200-42738400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr10:42738200-42738400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr10:42738200-42738600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:42738200-42738800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:42738200-42738800	Enhancers	Pancreas	Pancrea
28	chr10:42738200-42738800	Active TSS	K562	blood
29	chr10:42738200-42739000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr10:42738200-42739000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
31	chr10:42738200-42739000	Weak transcription	HSMM	muscle
32	chr10:42738200-42739200	Active TSS	Right Ventricle	heart
33	chr10:42738400-42739000	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr10:42738400-42739200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:42738400-42739200	Active TSS	HepG2	liver
36	chr10:42738600-42738800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:42738600-42738800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:42738600-42738800	Bivalent/Poised TSS	Esophagus	oesophagus
39	chr10:42738600-42739000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr10:42738600-42739200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
41	chr10:42738800-42739000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:42739000-42739200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr10:42739000-42739200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr10:42739000-42739200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:42739000-42739200	Enhancers	Placenta	Placenta
46	chr10:42739000-42739200	Bivalent/Poised TSS	NHEK	skin
47	chr10:42739000-42739400	Active TSS	HSMM	muscle
48	chr10:42742600-42742800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links