Variant report

Variant	nsv604264
Chromosome Location	chr6:100995048-101084946
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:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
2	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
3	chr6:101020351..101022880-chr6:101024061..101026252,2	K562	blood:
4	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
5	chr6:101004586..101006305-chr6:101009165..101010725,2	MCF-7	breast:
6	chr6:101006431..101008504-chr6:101017290..101019362,2	K562	blood:
7	chr6:100963737..100966583-chr6:100995209..100997563,2	MCF-7	breast:
8	chr6:100323281..100325618-chr6:101011792..101014556,2	K562	blood:
9	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
10	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
11	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
12	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
13	chr6:101016964..101018507-chr6:101018894..101020427,2	MCF-7	breast:
14	chr6:101081950..101083969-chr6:101086738..101088997,2	MCF-7	breast:
15	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
16	chr6:101017900..101019505-chr6:101022464..101024601,2	K562	blood:
17	chr6:101017900..101019505-chr6:101022464..101024601,2	K562	blood:
18	chr6:101006431..101008504-chr6:101017290..101019362,2	K562	blood:
19	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
20	chr6:101004586..101006305-chr6:101009165..101010725,2	MCF-7	breast:
21	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
22	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
23	chr6:100939724..100941535-chr6:101006405..101008824,2	MCF-7	breast:
24	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
25	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
26	chr6:101016964..101018507-chr6:101018894..101020427,2	MCF-7	breast:
27	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
28	chr6:101020351..101022880-chr6:101024061..101026252,2	K562	blood:
29	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIM1-3	chr6:101080704-101080933	uc_202_-
2	lnc-GRIK2-6	chr6:101080704-101080933	uc_202_+

No data

Variant related genes	Relation type
ENSG00000124225	chromatin interactions

Extended variants
information (count: 3340 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3340 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13210135	chr6:100995048-100995049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190761411	chr6:100995050-100995051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562631449	chr6:100995082-100995083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534884215	chr6:100995129-100995130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553051777	chr6:100995195-100995196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201239984	chr6:100995232-100995233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577682078	chr6:100995250-100995251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181686949	chr6:100995278-100995279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117029339	chr6:100995435-100995436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531652633	chr6:100995576-100995577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58137129	chr6:100995646-100995647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574957535	chr6:100995647-100995648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540788206	chr6:100995660-100995661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149616969	chr6:100995675-100995676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185306788	chr6:100995728-100995729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541188314	chr6:100995898-100995899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62422668	chr6:100995915-100995916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79727163	chr6:100995917-100995918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76172986	chr6:100995927-100995928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560802645	chr6:100995935-100995936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111758898	chr6:100995960-100995961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551431846	chr6:100995995-100995996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563168176	chr6:100996003-100996004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530517027	chr6:100996045-100996046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189420165	chr6:100996096-100996097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34993171	chr6:100996114-100996115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534896470	chr6:100996183-100996184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371659776	chr6:100996216-100996217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181254291	chr6:100996292-100996293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571791199	chr6:100996331-100996332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538790839	chr6:100996346-100996347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562461746	chr6:100996382-100996383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75394456	chr6:100996461-100996462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541922689	chr6:100996487-100996488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536604223	chr6:100996533-100996534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555711763	chr6:100996547-100996548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142973524	chr6:100996619-100996620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541247666	chr6:100996624-100996625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79978860	chr6:100996627-100996628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9390454	chr6:100996660-100996661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75874229	chr6:100996677-100996678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544816489	chr6:100996692-100996693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569850510	chr6:100996695-100996696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77522827	chr6:100996699-100996700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530426605	chr6:100996718-100996719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201127251	chr6:100996720-100996721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555500481	chr6:100996726-100996727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561893168	chr6:100996736-100996737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542175352	chr6:100996751-100996752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561268735	chr6:100996758-100996759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100952800-100997400	Weak transcription	A549	lung
2	chr6:100960800-101035000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:100961000-100997200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:100964200-101020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:100964800-100998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:100965200-101000800	Weak transcription	Fetal Intestine Small	intestine
7	chr6:100965200-101011400	Weak transcription	Pancreas	Pancrea
8	chr6:100965400-101005000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:100965600-101033600	Weak transcription	Ovary	ovary
10	chr6:100966000-101002400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:100966200-100996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:100978200-101008200	Weak transcription	NHDF-Ad	bronchial
13	chr6:100978600-101019400	Weak transcription	HMEC	breast
14	chr6:100979800-101018200	Weak transcription	Primary T cells from cord blood	blood
15	chr6:100981800-101001400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:100984800-101000400	Weak transcription	HepG2	liver
17	chr6:100986400-101005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:100987600-100997000	Weak transcription	HSMM	muscle
19	chr6:100988000-101019000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:100988200-100997200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:100988200-100997200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:100988200-100997200	Weak transcription	Osteobl	bone
23	chr6:100988200-100998400	Weak transcription	HUVEC	blood vessel
24	chr6:100988200-101001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:100988200-101018800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:100988200-101035000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:100988200-101035000	Weak transcription	GM12878-XiMat	blood
28	chr6:100988400-100997000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:100988400-101005000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:100988800-101008400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:100988800-101034200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:100989000-101018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:100989400-100996600	Weak transcription	Primary B cells from cord blood	blood
34	chr6:100989600-100996400	Weak transcription	Dnd41	blood
35	chr6:100990600-101018200	Weak transcription	Left Ventricle	heart
36	chr6:100996400-100997800	Strong transcription	Dnd41	blood
37	chr6:100996600-100998200	Strong transcription	Primary B cells from cord blood	blood
38	chr6:100996800-101016000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:100997000-100997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:100997000-100998000	Enhancers	HSMM	muscle
41	chr6:100997200-100997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:100997200-100997600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:100997200-100998000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:100997200-100998000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:100997200-100998000	Enhancers	Osteobl	bone
46	chr6:100997400-100997800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:100997400-100998000	Enhancers	A549	lung
48	chr6:100997400-101008400	Weak transcription	NH-A	brain
49	chr6:100997600-101017000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:100997800-100998000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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