Variant report

Variant	nsv1005254
Chromosome Location	chr4:82416237-82521768
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:82419318..82421780-chr4:82425169..82427385,2	K562	blood:
2	chr4:82428172..82429883-chr4:82430568..82432981,2	K562	blood:
3	chr4:82435027..82436952-chr4:82443349..82445312,2	K562	blood:
4	chr4:82424220..82426240-chr4:82443062..82445308,2	MCF-7	breast:
5	chr4:82432485..82434044-chr4:82437618..82439324,2	K562	blood:
6	chr4:82501719..82504530-chr4:82512764..82515093,2	K562	blood:
7	chr4:82432485..82434044-chr4:82437618..82439324,2	K562	blood:
8	chr4:82424220..82426240-chr4:82443062..82445308,2	MCF-7	breast:
9	chr22:22295757..22298107-chr4:82520720..82523521,2	MCF-7	breast:
10	chr4:82428172..82429883-chr4:82430568..82432981,2	K562	blood:
11	chr4:82496846..82499479-chr4:82499687..82501645,2	K562	blood:
12	chr4:82419318..82421780-chr4:82425169..82427385,2	K562	blood:
13	chr4:82435027..82436952-chr4:82443349..82445312,2	K562	blood:
14	chr4:82501719..82504530-chr4:82512764..82515093,2	K562	blood:
15	chr4:82326836..82327578-chr4:82476960..82477646,2	K562	blood:
16	chr4:82496846..82499479-chr4:82499687..82501645,2	K562	blood:
17	chr4:82477946..82480606-chr4:83276860..83279802,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGEF1B-1	chr4:82442566-82442699	ENSG00000251331.1

No data

Variant related genes	Relation type
ENSG00000138668	chromatin interactions

Extended variants
information (count: 3117 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3117 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41523946	chr4:82416237-82416238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533632947	chr4:82416244-82416245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553864149	chr4:82416298-82416299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563315678	chr4:82416304-82416305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115271179	chr4:82416315-82416316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60702437	chr4:82416325-82416326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576016267	chr4:82416371-82416372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181907887	chr4:82416408-82416409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554687826	chr4:82416418-82416419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372695612	chr4:82416471-82416472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144708024	chr4:82416596-82416597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540362369	chr4:82416613-82416614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560262260	chr4:82416617-82416618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532129692	chr4:82416690-82416691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370257507	chr4:82416706-82416707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148510600	chr4:82416744-82416745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528677985	chr4:82416748-82416749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538625156	chr4:82416785-82416786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186982994	chr4:82416917-82416918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35551519	chr4:82416943-82416944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551530529	chr4:82416973-82416974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531532536	chr4:82416986-82416987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548494987	chr4:82416995-82416996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72663897	chr4:82417025-82417026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17005147	chr4:82417060-82417061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191057609	chr4:82417092-82417093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182411562	chr4:82417099-82417100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186694714	chr4:82417119-82417120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368185148	chr4:82417120-82417121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11939325	chr4:82417143-82417144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569542888	chr4:82417163-82417164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571741336	chr4:82417215-82417216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574614604	chr4:82417247-82417248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576966859	chr4:82417252-82417253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190052108	chr4:82417264-82417265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574738617	chr4:82417286-82417287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144185970	chr4:82417306-82417307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553810518	chr4:82417331-82417332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146763794	chr4:82417341-82417342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74770420	chr4:82417355-82417356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536586365	chr4:82417372-82417373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562324057	chr4:82417388-82417389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576223899	chr4:82417389-82417390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183038321	chr4:82417395-82417396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35010226	chr4:82417439-82417440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534967257	chr4:82417454-82417455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187363700	chr4:82417482-82417483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547423168	chr4:82417519-82417520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564133941	chr4:82417540-82417541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13128387	chr4:82417592-82417593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82411800-82417000	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:82413800-82425200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:82414200-82419200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:82414800-82416800	Enhancers	Fetal Intestine Large	intestine
5	chr4:82415400-82417200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:82415400-82421000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:82415600-82417000	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:82415600-82417000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:82415600-82417000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:82415800-82416400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:82415800-82416400	Enhancers	Adipose Nuclei	Adipose
12	chr4:82415800-82416600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:82415800-82416600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:82415800-82416600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:82415800-82416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:82415800-82417000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:82415800-82417200	Enhancers	Primary B cells from cord blood	blood
18	chr4:82415800-82417200	Enhancers	Primary T cells from cord blood	blood
19	chr4:82415800-82417400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:82415800-82420400	Weak transcription	Fetal Lung	lung
21	chr4:82415800-82421000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:82415800-82423800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:82415800-82425800	Weak transcription	Right Atrium	heart
24	chr4:82415800-82426000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:82416000-82416600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:82416000-82416600	Enhancers	Fetal Intestine Small	intestine
27	chr4:82416000-82421000	Weak transcription	Fetal Thymus	thymus
28	chr4:82416400-82416600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:82416400-82421600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:82416600-82416800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:82416600-82416800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:82416600-82427600	Weak transcription	Fetal Intestine Small	intestine
33	chr4:82416800-82420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:82417000-82419600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:82417000-82420000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:82417000-82420400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:82417200-82420000	Weak transcription	Primary T cells from cord blood	blood
38	chr4:82417200-82423400	Weak transcription	Primary B cells from cord blood	blood
39	chr4:82418800-82420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:82419000-82421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:82419000-82421200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:82419000-82421400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:82419200-82419600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:82419200-82419800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:82419200-82420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:82419200-82420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:82419200-82420800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:82419400-82419600	Enhancers	Placenta	Placenta
49	chr4:82419400-82419600	Enhancers	Lung	lung
50	chr4:82419400-82419600	Enhancers	Sigmoid Colon	Sigmoid Colon

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