Variant report

Variant	nsv830102
Chromosome Location	chr4:143820268-143953611
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143945765..143946547-chr4:144099211..144100178,2	MCF-7	breast:
2	chr20:57606842..57607490-chr4:143895238..143895857,2	MCF-7	breast:
3	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:
4	chr4:143894181..143895785-chr4:143899696..143901911,2	MCF-7	breast:
5	chr4:143905907..143906905-chr4:144005037..144005825,3	MCF-7	breast:
6	chr4:143803402..143804305-chr4:143946373..143947084,2	MCF-7	breast:
7	chr4:143845292..143846837-chr4:143847161..143849163,2	MCF-7	breast:
8	chr4:143863874..143866091-chr4:143870252..143871994,2	MCF-7	breast:
9	chr4:143903053..143905362-chr4:144105356..144107537,3	MCF-7	breast:
10	chr4:143881105..143883700-chr4:144027796..144029991,2	MCF-7	breast:
11	chr4:143941542..143943982-chr4:143948161..143949763,2	MCF-7	breast:
12	chr4:143894817..143895649-chr5:156735762..156736298,2	MCF-7	breast:
13	chr4:143274011..143274935-chr4:143946210..143946920,2	MCF-7	breast:
14	chr4:143863874..143866091-chr4:143870252..143871994,2	MCF-7	breast:
15	chr4:143894181..143895785-chr4:143899696..143901911,2	MCF-7	breast:
16	chr4:143804340..143805239-chr4:143946331..143947512,3	MCF-7	breast:
17	chr4:143906143..143906667-chr4:143946471..143946983,2	MCF-7	breast:
18	chr4:143845292..143846837-chr4:143847161..143849163,2	MCF-7	breast:
19	chr4:143771733..143772322-chr4:143906005..143906508,2	MCF-7	breast:
20	chr4:143920733..143921365-chr4:143957435..143958152,3	MCF-7	breast:
21	chr4:143906143..143906667-chr4:143946471..143946983,2	MCF-7	breast:
22	chr4:143847589..143849714-chr4:144104307..144107096,2	K562	blood:
23	chr4:143941542..143943982-chr4:143948161..143949763,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4B-2	chr4:143861242-143861398	ENSG00000250326.1
2	lnc-INPP4B-2	chr4:143854348-143854415	ENSG00000250326.1
3	lnc-INPP4B-1	chr4:143837531-143837941	XLOC_004105
4	lnc-INPP4B-1	chr4:143839745-143839844	XLOC_004105

No data

Variant related genes	Relation type
ENSG00000170185	chromatin interactions
ENSG00000124172	chromatin interactions
ENSG00000250326	chromatin interactions
NR3C2	miRNA target sites
RNF141	miRNA target sites

Extended variants
information (count: 3386 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3386 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373064016	chr4:143820275-143820276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4690706	chr4:143820308-143820309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140144368	chr4:143820325-143820326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539688071	chr4:143820383-143820384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149820569	chr4:143820399-143820400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111755952	chr4:143820406-143820407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575115872	chr4:143820443-143820444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545912662	chr4:143820499-143820500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368248585	chr4:143820522-143820523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557404153	chr4:143820525-143820526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112661136	chr4:143820546-143820547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10031887	chr4:143820562-143820563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559626127	chr4:143820602-143820603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575126260	chr4:143820609-143820610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200248639	chr4:143820621-143820622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185194778	chr4:143820639-143820640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563728409	chr4:143820643-143820644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375812401	chr4:143820657-143820658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397977674	chr4:143820663-143820664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536839932	chr4:143820702-143820703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530780469	chr4:143820742-143820743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552717536	chr4:143820755-143820756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1584131	chr4:143820761-143820762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555489586	chr4:143820764-143820765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574060470	chr4:143820765-143820766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145886825	chr4:143820811-143820812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189744008	chr4:143820838-143820839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535777184	chr4:143820891-143820892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550581764	chr4:143820929-143820930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148585247	chr4:143820963-143820964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142801132	chr4:143821021-143821022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368904917	chr4:143821105-143821106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2322908	chr4:143821134-143821135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558329075	chr4:143821147-143821148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572560079	chr4:143821168-143821169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199666182	chr4:143821170-143821171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533640349	chr4:143821195-143821196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553574367	chr4:143821207-143821208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111236290	chr4:143821215-143821216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544052144	chr4:143821227-143821228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541255454	chr4:143821239-143821240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553298321	chr4:143821297-143821298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578204743	chr4:143821304-143821305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181338468	chr4:143821343-143821344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563792267	chr4:143821354-143821355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563961906	chr4:143821430-143821431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117775960	chr4:143821442-143821443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564469086	chr4:143821454-143821455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72937983	chr4:143821477-143821478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547099435	chr4:143821570-143821571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143818000-143821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143821400-143822000	Enhancers	Fetal Muscle Trunk	muscle
3	chr4:143821400-143822600	Enhancers	Fetal Stomach	stomach
4	chr4:143821800-143822000	Enhancers	Right Atrium	heart
5	chr4:143821800-143822000	ZNF genes & repeats	Spleen	Spleen
6	chr4:143821800-143822200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:143821800-143823200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:143822000-143822200	Enhancers	Spleen	Spleen
9	chr4:143822200-143822600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:143822200-143822600	Enhancers	Stomach Smooth Muscle	stomach
11	chr4:143822400-143822600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:143822600-143831200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:143823000-143823200	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:143829800-143830000	Enhancers	Aorta	Aorta
15	chr4:143830000-143832800	Weak transcription	Aorta	Aorta
16	chr4:143830400-143830800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:143831200-143831400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr4:143831200-143831400	Flanking Active TSS	HSMMtube	muscle
19	chr4:143831200-143831600	Enhancers	Colon Smooth Muscle	Colon
20	chr4:143831200-143832000	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:143831400-143831600	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:143831400-143831600	Enhancers	HSMMtube	muscle
23	chr4:143831600-143834600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:143831600-143834800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:143832000-143832800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:143832000-143834600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:143832800-143833000	Enhancers	Aorta	Aorta
28	chr4:143833000-143835600	Weak transcription	Aorta	Aorta
29	chr4:143834400-143835400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:143834600-143835000	Enhancers	Colon Smooth Muscle	Colon
31	chr4:143834600-143835000	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:143834800-143835000	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:143835000-143839000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:143835000-143844200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:143837400-143848800	Weak transcription	Aorta	Aorta
36	chr4:143839000-143840400	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:143840400-143844000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:143840600-143840800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:143840800-143845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:143843800-143845600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:143844000-143844200	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:143844000-143845600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:143844000-143845600	Enhancers	Stomach Smooth Muscle	stomach
44	chr4:143844200-143844600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:143844200-143846800	Enhancers	Colon Smooth Muscle	Colon
46	chr4:143844400-143845600	Enhancers	Ovary	ovary
47	chr4:143844600-143845000	Enhancers	Fetal Stomach	stomach
48	chr4:143844600-143845600	Enhancers	Fetal Intestine Large	intestine
49	chr4:143844600-143845600	Enhancers	Fetal Intestine Small	intestine
50	chr4:143844600-143847000	Enhancers	Rectal Smooth Muscle	rectum

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