Variant report

Variant	nsv961937
Chromosome Location	chr2:233593399-233594937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:233594700-233594850	GM06990	blood:	n/a	n/a
2	POLR2A	chr2:233593748-233593804	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:233593571-233593605	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:233593764-233593780	A549	lung:	n/a	n/a
5	POLR2A	chr2:233593919-233593936	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:233594488-233594556	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:233593791-233593912	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233591305..233594002-chr2:233611275..233613408,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHD1-2	chr2:233593258-233595607	NONHSAT077444

No data

Variant related genes	Relation type
ENSG00000213055	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539010905	chr2:233593428-233593429	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs17164	chr2:233593499-233593500	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs575680932	chr2:233593552-233593553	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539441596	chr2:233593584-233593585	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs150993948	chr2:233593623-233593624	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183142790	chr2:233593635-233593636	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs570054752	chr2:233593637-233593638	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs34755343	chr2:233593639-233593640	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570943570	chr2:233593654-233593655	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs6724117	chr2:233593660-233593661	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540493187	chr2:233593677-233593678	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560398579	chr2:233593701-233593702	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs59929727	chr2:233593721-233593722	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544602221	chr2:233593729-233593730	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs534206679	chr2:233593733-233593734	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564871493	chr2:233593764-233593765	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs530581270	chr2:233593767-233593768	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs73092790	chr2:233593774-233593775	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561101589	chr2:233593845-233593846	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs114000146	chr2:233593846-233593847	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs138304997	chr2:233593848-233593849	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs148755062	chr2:233593906-233593907	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs114346957	chr2:233593917-233593918	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188530256	chr2:233593943-233593944	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs142884903	chr2:233593970-233593971	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs146098687	chr2:233593980-233593981	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs192256565	chr2:233593985-233593986	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs369946488	chr2:233594027-233594028	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs140007143	chr2:233594054-233594055	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs143600996	chr2:233594109-233594110	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs552251375	chr2:233594129-233594130	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs556034710	chr2:233594158-233594159	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544688594	chr2:233594164-233594165	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368864008	chr2:233594174-233594175	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs74636505	chr2:233594184-233594185	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs575259048	chr2:233594335-233594336	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs150892358	chr2:233594338-233594339	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs139435119	chr2:233594342-233594343	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs529960513	chr2:233594392-233594393	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572671415	chr2:233594393-233594394	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372593734	chr2:233594447-233594448	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540416754	chr2:233594467-233594468	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs184739622	chr2:233594501-233594502	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs535370139	chr2:233594531-233594532	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs61747707	chr2:233594537-233594538	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373263830	chr2:233594551-233594552	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs552312514	chr2:233594560-233594561	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569201746	chr2:233594566-233594567	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs531593788	chr2:233594574-233594575	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs548692366	chr2:233594605-233594606	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233596400	Weak transcription	NHLF	lung
2	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
4	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
5	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
6	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
8	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
10	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:233570600-233593400	Weak transcription	Aorta	Aorta
13	chr2:233571200-233593600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
15	chr2:233571200-233627400	Weak transcription	Gastric	stomach
16	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
17	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:233574400-233593400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:233580200-233596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:233580800-233595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:233581000-233594200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:233585400-233595000	Strong transcription	HepG2	liver
26	chr2:233585600-233595000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:233585600-233595200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
30	chr2:233586400-233595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:233586400-233603200	Strong transcription	Fetal Thymus	thymus
32	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:233586800-233599000	Weak transcription	K562	blood
34	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
35	chr2:233587200-233596600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:233587200-233604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:233587400-233594200	Weak transcription	Ovary	ovary
39	chr2:233587400-233594200	Weak transcription	Right Ventricle	heart
40	chr2:233588400-233595000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:233588400-233595200	Strong transcription	Fetal Stomach	stomach
42	chr2:233588400-233599600	Strong transcription	Primary T cells from cord blood	blood
43	chr2:233588600-233595000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:233588600-233595600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:233588600-233597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:233588800-233595000	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:233588800-233595000	Strong transcription	GM12878-XiMat	blood
48	chr2:233588800-233596400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:233588800-233597000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:233588800-233605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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