Variant report

Variant	nsv1043342
Chromosome Location	chr10:44650635-44682716
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:37)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:44668858..44670394-chr10:44753194..44755475,2	MCF-7	breast:
2	chr10:44668515..44669612-chr10:44796448..44797191,3	MCF-7	breast:
3	chr10:44668756..44669635-chr10:44740165..44740989,3	MCF-7	breast:
4	chr10:44668602..44669269-chr10:44739464..44740027,2	MCF-7	breast:
5	chr10:44608949..44610824-chr10:44662547..44664428,2	MCF-7	breast:
6	chr10:44664819..44666637-chr10:44666893..44669742,2	MCF-7	breast:
7	chr10:44671351..44672873-chr10:44688913..44691046,2	K562	blood:
8	chr10:44668657..44669664-chr10:44740101..44741067,9	MCF-7	breast:
9	chr10:44668870..44669840-chr10:44732106..44732623,2	MCF-7	breast:
10	chr10:44668784..44669295-chr10:44732134..44732905,2	MCF-7	breast:
11	chr10:44668722..44669318-chr10:44880002..44880533,2	MCF-7	breast:
12	chr10:44667690..44669212-chr10:44804064..44805875,2	MCF-7	breast:
13	chr10:44668076..44670399-chr10:44731878..44734290,2	MCF-7	breast:
14	chr10:44668602..44669587-chr10:44739181..44740041,6	MCF-7	breast:
15	chr10:44664819..44666637-chr10:44666893..44669742,2	MCF-7	breast:
16	chr10:44678734..44680302-chr10:44689215..44691218,2	MCF-7	breast:
17	chr10:44669470..44673256-chr10:44752953..44756762,5	MCF-7	breast:
18	chr10:44668727..44669822-chr10:44796486..44797204,4	MCF-7	breast:
19	chr10:44185118..44187930-chr10:44667702..44670061,3	MCF-7	breast:
20	chr10:44349396..44350216-chr10:44669102..44669618,2	MCF-7	breast:
21	chr10:44273876..44274692-chr10:44668633..44669199,2	MCF-7	breast:
22	chr10:44677585..44679491-chr10:44682542..44684188,2	MCF-7	breast:
23	chr10:44668379..44669722-chr10:44731795..44732960,38	MCF-7	breast:
24	chr10:44273876..44274692-chr10:44668633..44669326,3	MCF-7	breast:
25	chr10:44668956..44670995-chr10:44797225..44798985,2	MCF-7	breast:
26	chr10:44666585..44670486-chr10:44673567..44676746,4	MCF-7	breast:
27	chr10:44668402..44669721-chr10:44731902..44733039,109	MCF-7	breast:
28	chr10:44668773..44669619-chr10:44796276..44797169,3	MCF-7	breast:
29	chr10:44193644..44194206-chr10:44668785..44669607,2	MCF-7	breast:
30	chr10:44668887..44669565-chr10:44754335..44755174,4	MCF-7	breast:
31	chr10:44668804..44669627-chr10:44739194..44739818,3	MCF-7	breast:
32	chr10:44677585..44679491-chr10:44682542..44684188,2	MCF-7	breast:
33	chr10:44666585..44670486-chr10:44673567..44676746,4	MCF-7	breast:
34	chr10:44668773..44669337-chr10:44805974..44806908,2	MCF-7	breast:
35	chr10:44668670..44669664-chr10:44740182..44741067,4	MCF-7	breast:
36	chr10:44668402..44669705-chr10:44731998..44733019,55	MCF-7	breast:
37	chr10:44668887..44669501-chr10:44754335..44754835,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL12-6	chr10:44649520-44650773	ucscGeneNc_uc001jbk_1
2	lnc-C10orf136-4	chr10:44669269-44669366	NONHSAT013025
3	lnc-C10orf136-4	chr10:44679398-44679797	NONHSAT013025

No data

Variant related genes	Relation type
ENSG00000234973	chromatin interactions
ENSG00000107562	chromatin interactions

Extended variants
information (count: 1361 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369843260	chr10:44650644-44650645	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562009772	chr10:44650656-44650657	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529413607	chr10:44650678-44650679	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs367768773	chr10:44650690-44650691	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs141692697	chr10:44650695-44650696	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs202119242	chr10:44650696-44650697	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201254848	chr10:44650734-44650735	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs115321397	chr10:44650803-44650804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182664077	chr10:44650819-44650820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115475748	chr10:44650860-44650861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17155329	chr10:44650861-44650862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs186622673	chr10:44650890-44650891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549769011	chr10:44650891-44650892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567990394	chr10:44650899-44650900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535517554	chr10:44650923-44650924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191823899	chr10:44650935-44650936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566270928	chr10:44651007-44651008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548762307	chr10:44651024-44651025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540044587	chr10:44651025-44651026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150500326	chr10:44651037-44651038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368130542	chr10:44651064-44651065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139467819	chr10:44651100-44651101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543425683	chr10:44651107-44651108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149311284	chr10:44651121-44651122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117118387	chr10:44651150-44651151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541506929	chr10:44651156-44651157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559467762	chr10:44651187-44651188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35683568	chr10:44651215-44651216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184327845	chr10:44651221-44651222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545608994	chr10:44651235-44651236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146271285	chr10:44651238-44651239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568503828	chr10:44651307-44651308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139453266	chr10:44651329-44651330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75844521	chr10:44651338-44651339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568037668	chr10:44651343-44651344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3900567	chr10:44651421-44651422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547465680	chr10:44651451-44651452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565791646	chr10:44651462-44651463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188665509	chr10:44651485-44651486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531011739	chr10:44651504-44651505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558407186	chr10:44651529-44651530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34035652	chr10:44651540-44651541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144089801	chr10:44651549-44651550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537735366	chr10:44651552-44651553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555829244	chr10:44651594-44651595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4082374	chr10:44651619-44651620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs541030472	chr10:44651651-44651652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375665641	chr10:44651670-44651671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375263684	chr10:44651680-44651681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146494265	chr10:44651681-44651682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44650200-44659800	Weak transcription	Left Ventricle	heart
2	chr10:44650600-44651600	Enhancers	Ovary	ovary
3	chr10:44653200-44653600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:44653200-44653600	Active TSS	Stomach Mucosa	stomach
5	chr10:44653600-44654000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr10:44655400-44655800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:44655800-44656200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:44655800-44656400	Enhancers	Colon Smooth Muscle	Colon
9	chr10:44656000-44656600	Enhancers	Brain Anterior Caudate	brain
10	chr10:44656200-44656600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:44656200-44656600	Enhancers	Right Atrium	heart
12	chr10:44656200-44656800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:44656200-44657000	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:44656200-44658000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:44656400-44657200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:44656600-44669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:44656600-44673200	Weak transcription	Right Atrium	heart
18	chr10:44658000-44668400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:44659600-44660000	Enhancers	Fetal Heart	heart
20	chr10:44659800-44660000	Enhancers	Right Ventricle	heart
21	chr10:44659800-44660000	Enhancers	HepG2	liver
22	chr10:44659800-44660400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:44659800-44660400	Enhancers	Fetal Muscle Leg	muscle
24	chr10:44659800-44660400	Enhancers	Left Ventricle	heart
25	chr10:44660000-44663000	Weak transcription	Fetal Heart	heart
26	chr10:44660000-44663200	Weak transcription	Right Ventricle	heart
27	chr10:44660000-44663400	Weak transcription	HepG2	liver
28	chr10:44660400-44661800	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:44660400-44668200	Weak transcription	Left Ventricle	heart
30	chr10:44661800-44662000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:44661800-44662000	Enhancers	Fetal Muscle Leg	muscle
32	chr10:44662000-44662200	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:44662000-44663000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:44663000-44663200	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:44663000-44663800	Enhancers	Fetal Heart	heart
36	chr10:44663000-44666200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:44663200-44663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:44663200-44663600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr10:44663200-44664200	Enhancers	Right Ventricle	heart
40	chr10:44663400-44664400	Enhancers	HepG2	liver
41	chr10:44663600-44664600	Enhancers	Duodenum Mucosa	Duodenum
42	chr10:44663800-44664200	Weak transcription	Fetal Heart	heart
43	chr10:44664000-44664200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:44664000-44664200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:44664000-44664200	Enhancers	Pancreas	Pancrea
46	chr10:44664200-44664400	Enhancers	Fetal Heart	heart
47	chr10:44664200-44665600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:44664200-44666400	Weak transcription	Pancreas	Pancrea
49	chr10:44664200-44667200	Weak transcription	Right Ventricle	heart
50	chr10:44664200-44669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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