Variant report

Variant	nsv979180
Chromosome Location	chr2:231264860-231267173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:231264789-231264989	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:231264816-231264972	IMR90	lung:	n/a	n/a
3	POLR2A	chr2:231266395-231266576	GM12878	blood:	n/a	n/a
4	RAD21	chr2:231265355-231265380	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231263713..231265623-chr2:231266968..231269149,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP140-5	chr2:231264842-231264957	NONHSAT077280
2	lnc-SP140-5	chr2:231265846-231266522	NONHSAT077282
3	lnc-SP140-5	chr2:231265670-231265768	NONHSAT077280
4	lnc-SP140-5	chr2:231265049-231265192	NONHSAT077281
5	lnc-SP140-5	chr2:231264536-231264957	NONHSAT077281
6	lnc-SP140-5	chr2:231266379-231266522	NONHSAT077278
7	lnc-SP140-5	chr2:231265049-231265128	NONHSAT077280
8	lnc-SP110-5	chr2:231263880-231265192	ucscGeneNc_uc002vqw_1
9	lnc-SP140-5	chr2:231264842-231266158	NONHSAT077278

No data

Variant related genes	Relation type
SP140L	TF binding region
ENSG00000185404	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140785296	chr2:231264872-231264873	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs375908423	chr2:231264873-231264874	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs567377530	chr2:231264894-231264895	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs61734774	chr2:231264898-231264899	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373711151	chr2:231264906-231264907	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs200057767	chr2:231264930-231264931	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs201303885	chr2:231264934-231264935	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs376546082	chr2:231264942-231264943	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs267599256	chr2:231264946-231264947	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs371042491	chr2:231264964-231264965	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs374458025	chr2:231264970-231264971	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs528221873	chr2:231264980-231264981	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564835372	chr2:231264988-231264989	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs75347608	chr2:231265019-231265020	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs556884634	chr2:231265021-231265022	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575149575	chr2:231265063-231265064	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542424439	chr2:231265065-231265066	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571291556	chr2:231265071-231265072	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs147498698	chr2:231265114-231265115	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs74002111	chr2:231265157-231265158	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541545422	chr2:231265219-231265220	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559579872	chr2:231265233-231265234	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs140235667	chr2:231265239-231265240	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs545067982	chr2:231265244-231265245	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs76130153	chr2:231265270-231265271	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs531187194	chr2:231265283-231265284	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536658193	chr2:231265311-231265312	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs6706167	chr2:231265323-231265324	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs371355163	chr2:231265327-231265328	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs567831221	chr2:231265328-231265329	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs6748339	chr2:231265342-231265343	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs184152209	chr2:231265376-231265377	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs6748445	chr2:231265405-231265406	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538631479	chr2:231265422-231265423	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs3731728	chr2:231265430-231265431	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs36011656	chr2:231265433-231265434	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568829143	chr2:231265436-231265437	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs3731729	chr2:231265443-231265444	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6719971	chr2:231265450-231265451	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371495838	chr2:231265482-231265483	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs540042103	chr2:231265495-231265496	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs376918667	chr2:231265542-231265543	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557976204	chr2:231265548-231265549	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113661991	chr2:231265552-231265553	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs368551483	chr2:231265676-231265677	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs563638115	chr2:231265697-231265698	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370724212	chr2:231265703-231265704	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs543369497	chr2:231265759-231265760	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs374897131	chr2:231265761-231265762	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs528730258	chr2:231265816-231265817	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231222200-231273200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:231225200-231268000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
5	chr2:231234200-231274400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:231245200-231265600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:231245800-231266000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:231248000-231265400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:231248000-231274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:231249000-231273200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:231250200-231273200	Weak transcription	Right Ventricle	heart
12	chr2:231252600-231272600	Weak transcription	NHDF-Ad	bronchial
13	chr2:231253600-231265800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:231254200-231272800	Weak transcription	NHEK	skin
15	chr2:231254400-231265000	Weak transcription	Pancreas	Pancrea
16	chr2:231254400-231267800	Weak transcription	NHLF	lung
17	chr2:231255200-231275600	Weak transcription	HMEC	breast
18	chr2:231256200-231265000	Weak transcription	HUVEC	blood vessel
19	chr2:231258000-231267600	Weak transcription	Esophagus	oesophagus
20	chr2:231258200-231273000	Weak transcription	NH-A	brain
21	chr2:231258600-231265400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr2:231258800-231275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:231259600-231268200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:231260000-231265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:231260200-231275400	Weak transcription	Small Intestine	intestine
26	chr2:231260800-231265600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:231260800-231272000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:231261000-231265600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:231261000-231265600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:231261000-231268400	Weak transcription	Fetal Lung	lung
31	chr2:231261000-231270600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:231261000-231271400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:231261000-231271400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:231261000-231271800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:231261000-231272000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:231261200-231265600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:231261200-231266000	Strong transcription	Primary B cells from cord blood	blood
38	chr2:231261200-231271800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:231261400-231265800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:231261600-231265200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:231261600-231265600	Strong transcription	Ovary	ovary
42	chr2:231261800-231265000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:231261800-231266600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:231262000-231265000	Enhancers	Fetal Heart	heart
45	chr2:231262200-231267400	Weak transcription	Osteobl	bone
46	chr2:231262200-231268200	Weak transcription	Left Ventricle	heart
47	chr2:231262800-231265000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:231262800-231267400	Weak transcription	GM12878-XiMat	blood
49	chr2:231262800-231273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:231263000-231265600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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