Variant report

Variant	esv3346512
Chromosome Location	chr10:42737746-42739894
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: 119 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377321032	chr10:42737750-42737751	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565331808	chr10:42737774-42737775	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527703591	chr10:42737793-42737794	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547777792	chr10:42737816-42737817	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561250651	chr10:42737825-42737826	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530043899	chr10:42737840-42737841	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550095464	chr10:42737862-42737863	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569792956	chr10:42737864-42737865	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538787434	chr10:42737872-42737873	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551989473	chr10:42737889-42737890	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565740411	chr10:42737898-42737899	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374419856	chr10:42737901-42737902	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534104200	chr10:42737908-42737909	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183596684	chr10:42737922-42737923	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574075573	chr10:42737925-42737926	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536597791	chr10:42737930-42737931	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs188532084	chr10:42737932-42737933	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556398014	chr10:42737937-42737938	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs371446655	chr10:42737962-42737963	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576562186	chr10:42737989-42737990	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs193248619	chr10:42738012-42738013	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs35444536	chr10:42738035-42738036	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183238309	chr10:42738075-42738076	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376371387	chr10:42738093-42738094	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7342111	chr10:42738098-42738099	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs186482272	chr10:42738115-42738116	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191330841	chr10:42738123-42738124	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183734653	chr10:42738135-42738136	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7342112	chr10:42738141-42738142	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532230230	chr10:42738147-42738148	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552317854	chr10:42738160-42738161	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565724779	chr10:42738164-42738165	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79460829	chr10:42738177-42738178	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528203118	chr10:42738178-42738179	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547879519	chr10:42738190-42738191	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567725157	chr10:42738198-42738199	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs61855271	chr10:42738209-42738210	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
38	rs368122934	chr10:42738213-42738214	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:71 , 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	chr10:42737000-42738400	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	chr10:42737200-42738200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
5	chr10:42737400-42738000	Weak transcription	HSMM	muscle
6	chr10:42737400-42739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:42737600-42738000	Active TSS	Esophagus	oesophagus
10	chr10:42737600-42738000	Active TSS	Pancreas	Pancrea
11	chr10:42737600-42738000	Bivalent/Poised TSS	Right Ventricle	heart
12	chr10:42737600-42738000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr10:42737600-42738400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:42737600-42738400	Active TSS	Colon Smooth Muscle	Colon
15	chr10:42737600-42738800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:42737600-42739200	Active TSS	Ovary	ovary
17	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:42737800-42739200	Active TSS	Aorta	Aorta
20	chr10:42737800-42739200	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr10:42737800-42739200	Active TSS	Right Atrium	heart
22	chr10:42738000-42738200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr10:42738000-42738200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:42738000-42738200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr10:42738000-42738200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
29	chr10:42738000-42738200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
32	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Lung	lung
33	chr10:42738000-42738200	Flanking Active TSS	Pancreas	Pancrea
34	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr10:42738000-42738200	ZNF genes & repeats	HSMM	muscle
36	chr10:42738000-42738400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:42738000-42738400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr10:42738000-42738400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr10:42738000-42738400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr10:42738000-42739000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr10:42738000-42739000	Bivalent Enhancer	Placenta	Placenta
42	chr10:42738000-42739000	Bivalent/Poised TSS	A549	lung
43	chr10:42738000-42739200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:42738200-42738400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr10:42738200-42738400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:42738200-42738400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr10:42738200-42738400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr10:42738200-42738400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr10:42738200-42738600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:42738200-42738800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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