Variant report

Variant	nsv599667
Chromosome Location	chr5:127336033-127347056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:127345131-127345333	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr5:127341799-127342124	A549	lung:	n/a	n/a
3	FOXA1	chr5:127341763-127342176	A549	lung:	n/a	n/a
4	IRF1	chr5:127340915-127341016	K562	blood:	n/a	n/a
5	MXI1	chr5:127346193-127346239	GM12878	blood:	n/a	n/a
6	NANOG	chr5:127345070-127345437	H1-hESC	embryonic stem cell:	n/a	chr5:127345295-127345304
7	POLR2A	chr5:127345124-127345931	K562	blood:	n/a	n/a
8	POLR2A	chr5:127345779-127345979	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:127346145-127346219	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:127346748-127346855	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:127344903-127345036	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:127346218-127346639	GM12878	blood:	n/a	n/a
13	RCOR1	chr5:127337496-127337543	K562	blood:	n/a	n/a
14	RFX5	chr5:127338262-127338315	H1-hESC	embryonic stem cell:	n/a	n/a
15	STAT3	chr5:127340583-127340607	MCF10A-Er-Src	breast:	n/a	n/a
16	WRNIP1	chr5:127338335-127338361	GM12878	blood:	n/a	n/a
17	ZNF263	chr5:127345134-127345754	HEK293-T-REx	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:127341675..127343994-chr5:127346186..127349178,2	K562	blood:
2	chr5:127333537..127335671-chr5:127340331..127342151,2	MCF-7	breast:
3	chr5:127341675..127343994-chr5:127346186..127349178,2	K562	blood:
4	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
5	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
6	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
7	chr5:127338244..127340714-chr5:127341909..127344131,2	K562	blood:
8	chr5:127330309..127331833-chr5:127336258..127338063,2	K562	blood:
9	chr5:127334451..127336663-chr5:127338395..127340537,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-2	chr5:127338221-127338514	ENSG00000245937.3
2	lnc-SLC12A2-3	chr5:127340363-127340991	NONHSAT103639
3	lnc-FBN2-1	chr5:127338387-127338514	ENSG00000245937
4	lnc-FBN2-1	chr5:127339336-127339680	ENSG00000245937
5	lnc-FBN2-2	chr5:127338041-127339371	NONHSAT103649

No data

Variant related genes	Relation type
ENSG00000245937	TF binding region
ENSG00000245937	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62373664	chr5:127336074-127336075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181309889	chr5:127336089-127336090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185536203	chr5:127336228-127336229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189615356	chr5:127336245-127336246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552727116	chr5:127336253-127336254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141637546	chr5:127336310-127336311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369754998	chr5:127336429-127336430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199526441	chr5:127336444-127336445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3082340	chr5:127336446-127336447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545368195	chr5:127336489-127336490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565062090	chr5:127336531-127336532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566712039	chr5:127336549-127336550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530679810	chr5:127336782-127336783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544421001	chr5:127336795-127336796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182224044	chr5:127336815-127336816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372722982	chr5:127336905-127336906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58418624	chr5:127336908-127336909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs62373665	chr5:127336946-127336947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57710964	chr5:127336950-127336951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200653697	chr5:127336951-127336952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201604524	chr5:127336953-127336954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62373685	chr5:127336954-127336955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61561391	chr5:127336955-127336956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4836355	chr5:127336956-127336957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34477685	chr5:127336957-127336958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371063311	chr5:127337060-127337061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4835937	chr5:127337086-127337087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs546959020	chr5:127337172-127337173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200463440	chr5:127337188-127337189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200340431	chr5:127337189-127337190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566784227	chr5:127337265-127337266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143687964	chr5:127337284-127337285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552493157	chr5:127337299-127337300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569217391	chr5:127337304-127337305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538004685	chr5:127337350-127337351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553146505	chr5:127337391-127337392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554764769	chr5:127337490-127337491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567338266	chr5:127337509-127337510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183329302	chr5:127337571-127337572	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148087385	chr5:127337581-127337582	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188789077	chr5:127337608-127337609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141825882	chr5:127337653-127337654	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2286386	chr5:127337711-127337712	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192928569	chr5:127337724-127337725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150593434	chr5:127337744-127337745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113060531	chr5:127337758-127337759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184044016	chr5:127337811-127337812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75523848	chr5:127337819-127337820	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187184427	chr5:127337833-127337834	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540419860	chr5:127337856-127337857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
4	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:127324400-127337400	Weak transcription	HMEC	breast
7	chr5:127324400-127337600	Weak transcription	NHEK	skin
8	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
11	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
13	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:127332400-127337400	Weak transcription	Primary B cells from cord blood	blood
18	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
19	chr5:127333600-127338200	Weak transcription	Ovary	ovary
20	chr5:127333600-127339400	Weak transcription	Right Ventricle	heart
21	chr5:127333600-127341600	Weak transcription	Psoas Muscle	Psoas
22	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
23	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
27	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:127334600-127394000	Weak transcription	Lung	lung
29	chr5:127335000-127337400	Weak transcription	Gastric	stomach
30	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
31	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
32	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:127336000-127338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:127336000-127343200	Weak transcription	A549	lung
35	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:127337400-127337600	Enhancers	Gastric	stomach
37	chr5:127337400-127338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:127337400-127338600	Enhancers	HMEC	breast
39	chr5:127337400-127339000	Strong transcription	Primary B cells from cord blood	blood
40	chr5:127337400-127339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:127337400-127339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:127337400-127339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:127337600-127338600	Enhancers	NHEK	skin
44	chr5:127337800-127338200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:127338000-127338600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:127338200-127338600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:127338200-127338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:127338200-127338600	Enhancers	Ovary	ovary
49	chr5:127338200-127339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:127338400-127355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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