Variant report

Variant	nsv966265
Chromosome Location	chr4:47493036-47493649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:47493160-47493310	GM12874	blood:	n/a	n/a
2	CTCF	chr4:47493069-47493118	GM10248	blood:	n/a	n/a
3	CTCF	chr4:47493140-47493290	GM12868	blood:	n/a	n/a
4	CTCF	chr4:47492438-47493108	A549	lung:	n/a	n/a
5	CTCF	chr4:47492470-47493062	SK-N-SH	brain:	n/a	n/a
6	FOS	chr4:47492651-47493046	MCF10A-Er-Src	breast:	n/a	chr4:47492881-47492893 chr4:47492727-47492738
7	RAD21	chr4:47492524-47493039	ECC-1	luminal epithelium:	n/a	n/a
8	WRNIP1	chr4:47493386-47493470	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD8-1	chr4:47492984-47493488	NONHSAT096253

Variant related genes	Relation type
ENSG00000242431	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551686419	chr4:47493053-47493054	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569838161	chr4:47493123-47493124	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10022897	chr4:47493210-47493211	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555233580	chr4:47493240-47493241	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568587915	chr4:47493246-47493247	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs535926984	chr4:47493270-47493271	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs137930666	chr4:47493308-47493309	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs59041603	chr4:47493309-47493310	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs141789056	chr4:47493310-47493311	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs397974993	chr4:47493315-47493316	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554287325	chr4:47493324-47493325	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs572508490	chr4:47493333-47493334	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs545868162	chr4:47493334-47493335	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs79537650	chr4:47493370-47493371	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185689828	chr4:47493511-47493512	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375215198	chr4:47493536-47493537	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190211845	chr4:47493548-47493549	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73813572	chr4:47493553-47493554	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566813865	chr4:47493610-47493611	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576611533	chr4:47493614-47493615	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47488600-47495400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:47488600-47495600	Weak transcription	Small Intestine	intestine
4	chr4:47488600-47500000	Weak transcription	Fetal Brain Male	brain
5	chr4:47488600-47514400	Weak transcription	Lung	lung
6	chr4:47488600-47524600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:47488800-47493400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:47488800-47495200	Weak transcription	Fetal Kidney	kidney
9	chr4:47488800-47495400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:47488800-47495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:47488800-47495600	Weak transcription	Fetal Lung	lung
12	chr4:47488800-47500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:47488800-47502400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:47488800-47502600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
16	chr4:47489000-47495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:47489000-47495400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:47489000-47495800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:47489000-47500600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:47489000-47512000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:47489000-47514400	Weak transcription	Fetal Stomach	stomach
22	chr4:47489000-47514600	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:47489200-47493600	Weak transcription	HSMM	muscle
24	chr4:47489200-47533600	Weak transcription	Esophagus	oesophagus
25	chr4:47489400-47495800	Weak transcription	Brain Angular Gyrus	brain
26	chr4:47489600-47511800	Weak transcription	HMEC	breast
27	chr4:47490000-47493600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:47490000-47495800	Weak transcription	Osteobl	bone
29	chr4:47490000-47501800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:47490000-47502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:47490000-47511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:47490000-47512200	Weak transcription	HSMMtube	muscle
33	chr4:47490000-47514800	Weak transcription	Placenta	Placenta
34	chr4:47490200-47514200	Weak transcription	NH-A	brain
35	chr4:47491000-47494600	Weak transcription	Pancreas	Pancrea
36	chr4:47491000-47495600	Weak transcription	Left Ventricle	heart
37	chr4:47491000-47495600	Weak transcription	Psoas Muscle	Psoas
38	chr4:47491200-47500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:47491800-47493200	Enhancers	HUVEC	blood vessel
40	chr4:47491800-47493400	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:47492200-47494400	Enhancers	NHEK	skin
42	chr4:47492600-47493200	Weak transcription	Primary B cells from cord blood	blood
43	chr4:47492600-47493400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:47492800-47493400	Weak transcription	Aorta	Aorta
45	chr4:47492800-47494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:47492800-47494600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:47492800-47495200	Weak transcription	Brain Substantia Nigra	brain
48	chr4:47492800-47495400	Weak transcription	Brain Anterior Caudate	brain
49	chr4:47492800-47495400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:47492800-47495600	Weak transcription	Ovary	ovary

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