Variant report

Variant	nsv511301
Chromosome Location	chr5:127327649-127337086
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127330309..127331833-chr5:127336258..127338063,2	K562	blood:
2	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
3	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
4	chr5:127330309..127331833-chr5:127336258..127338063,2	K562	blood:
5	chr5:127332389..127335376-chr5:127338224..127340344,3	K562	blood:
6	chr5:127329402..127331432-chr5:127331653..127333291,2	K562	blood:
7	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
8	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
9	chr5:127333537..127335671-chr5:127340331..127342151,2	MCF-7	breast:
10	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
11	chr3:122227988..122228941-chr5:127331066..127332034,2	MCF-7	breast:
12	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
13	chr5:127334451..127336663-chr5:127338395..127340537,2	K562	blood:
14	chr5:127329402..127331432-chr5:127331653..127333291,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A2-3	chr5:127331724-127332178	NONHSAT103639

No data

Variant related genes	Relation type
ENSG00000245937	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs763880	chr5:127327649-127327650	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147261729	chr5:127327748-127327749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530846690	chr5:127327774-127327775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185489574	chr5:127327792-127327793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550758371	chr5:127327839-127327840	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140733172	chr5:127327883-127327884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530199591	chr5:127327890-127327891	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7444438	chr5:127327929-127327930	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142961067	chr5:127327981-127327982	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538985316	chr5:127328001-127328002	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147439368	chr5:127328005-127328006	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545835870	chr5:127328017-127328018	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189374526	chr5:127328048-127328049	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116418251	chr5:127328054-127328055	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148475368	chr5:127328105-127328106	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574737690	chr5:127328165-127328166	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535932539	chr5:127328252-127328253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552991644	chr5:127328268-127328269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370298778	chr5:127328287-127328288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572853705	chr5:127328288-127328289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544959012	chr5:127328324-127328325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558281577	chr5:127328336-127328337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201564655	chr5:127328338-127328339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199537403	chr5:127328340-127328341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200058426	chr5:127328341-127328342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7714490	chr5:127328342-127328343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79098354	chr5:127328344-127328345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3081393	chr5:127328345-127328346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201105550	chr5:127328346-127328347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397839098	chr5:127328371-127328372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533161058	chr5:127328372-127328373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3081394	chr5:127328373-127328374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544548676	chr5:127328457-127328458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182020161	chr5:127328526-127328527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561170429	chr5:127328543-127328544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540064733	chr5:127328622-127328623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186476983	chr5:127328629-127328630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116211998	chr5:127328643-127328644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552510203	chr5:127328695-127328696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540867629	chr5:127328721-127328722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568945334	chr5:127328734-127328735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531880280	chr5:127328799-127328800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142640973	chr5:127328875-127328876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34835723	chr5:127328982-127328983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529903464	chr5:127328991-127328992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150981285	chr5:127329049-127329050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554091551	chr5:127329063-127329064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190524025	chr5:127329065-127329066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543333783	chr5:127329101-127329102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370763261	chr5:127329118-127329119	Weak transcription Enhancers	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
2	chr5:127297600-127332000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:127304000-127333400	Weak transcription	Primary T cells from cord blood	blood
5	chr5:127306600-127333200	Weak transcription	Psoas Muscle	Psoas
6	chr5:127318000-127328800	Weak transcription	Stomach Mucosa	stomach
7	chr5:127323800-127327800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:127323800-127328000	Weak transcription	Esophagus	oesophagus
9	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:127324000-127331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:127324000-127333200	Weak transcription	Left Ventricle	heart
12	chr5:127324000-127333200	Weak transcription	Pancreas	Pancrea
13	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
14	chr5:127324200-127330800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:127324200-127332200	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:127324200-127334800	Weak transcription	K562	blood
17	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:127324400-127329200	Weak transcription	A549	lung
19	chr5:127324400-127329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127324400-127334400	Weak transcription	Gastric	stomach
21	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:127324400-127337400	Weak transcription	HMEC	breast
23	chr5:127324400-127337600	Weak transcription	NHEK	skin
24	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
28	chr5:127327400-127328200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:127327800-127328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:127328000-127328200	ZNF genes & repeats	Esophagus	oesophagus
32	chr5:127328200-127329200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
34	chr5:127328400-127333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:127328800-127329800	Enhancers	Stomach Mucosa	stomach
36	chr5:127329200-127329600	Enhancers	HepG2	liver
37	chr5:127329200-127329800	Enhancers	A549	lung
38	chr5:127329200-127330400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:127329400-127329600	Enhancers	Small Intestine	intestine
40	chr5:127329400-127330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:127329600-127333200	Weak transcription	Small Intestine	intestine
43	chr5:127329800-127330200	Weak transcription	Stomach Mucosa	stomach
44	chr5:127329800-127334800	Weak transcription	A549	lung
45	chr5:127330200-127330400	Enhancers	Stomach Mucosa	stomach
46	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:127330400-127332000	Weak transcription	Stomach Mucosa	stomach
48	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:127330800-127331400	Enhancers	Ovary	ovary
50	chr5:127330800-127331800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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