Variant report

Variant	nsv886448
Chromosome Location	chr6:101018032-101123503
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:45)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:100564241..100565258-chr6:101104940..101106162,4	MCF-7	breast:
2	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
3	chr6:100927185..100927844-chr6:101105325..101105870,2	MCF-7	breast:
4	chr6:101103606..101105187-chr6:101110691..101113240,2	K562	blood:
5	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
6	chr6:100564262..100565210-chr6:101105116..101106264,3	K562	blood:
7	chr6:101103606..101105187-chr6:101110691..101113240,2	K562	blood:
8	chr6:100315907..100316622-chr6:101105335..101106035,2	K562	blood:
9	chr6:101017900..101019505-chr6:101022464..101024601,2	K562	blood:
10	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
11	chr6:101057024..101059544-chr6:101398692..101400539,2	K562	blood:
12	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
13	chr6:101006431..101008504-chr6:101017290..101019362,2	K562	blood:
14	chr6:100555103..100555824-chr6:101111851..101112620,3	MCF-7	breast:
15	chr6:100564279..100564893-chr6:101111911..101112519,2	MCF-7	breast:
16	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
17	chr6:100559670..100561904-chr6:101108976..101110745,2	MCF-7	breast:
18	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
19	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
20	chr6:100774621..100775576-chr6:101105387..101106278,3	MCF-7	breast:
21	chr6:100774579..100775648-chr6:101105264..101106241,7	MCF-7	breast:
22	chr6:101090896..101093112-chr6:101096818..101099684,2	K562	blood:
23	chr6:101067158..101069268-chr6:101070159..101073076,2	K562	blood:
24	chr20:56283793..56286446-chr6:101062328..101064886,2	MCF-7	breast:
25	chr6:101016964..101018507-chr6:101018894..101020427,2	MCF-7	breast:
26	chr6:101081950..101083969-chr6:101086738..101088997,2	MCF-7	breast:
27	chr6:101020351..101022880-chr6:101024061..101026252,2	K562	blood:
28	chr6:101017900..101019505-chr6:101022464..101024601,2	K562	blood:
29	chr6:101040719..101042241-chr6:101045134..101047250,2	K562	blood:
30	chr6:101041802..101044393-chr6:101056918..101059370,2	K562	blood:
31	chr6:101020351..101022880-chr6:101024061..101026252,2	K562	blood:
32	chr6:100315644..100316614-chr6:101111864..101112500,2	K562	blood:
33	chr6:100564237..100565179-chr6:101105285..101106695,9	MCF-7	breast:
34	chr6:101115915..101118042-chr6:101119236..101121242,2	MCF-7	breast:
35	chr6:101081950..101083969-chr6:101086738..101088997,2	MCF-7	breast:
36	chr6:101115915..101118042-chr6:101119236..101121242,2	MCF-7	breast:
37	chr6:101073440..101076010-chr6:101092946..101094506,2	K562	blood:
38	chr6:101024034..101026560-chr6:101041460..101044362,2	K562	blood:
39	chr6:101016964..101018507-chr6:101018894..101020427,2	MCF-7	breast:
40	chr6:100933157..100934125-chr6:101104912..101105845,2	MCF-7	breast:
41	chr6:101090896..101093112-chr6:101096818..101099684,2	K562	blood:
42	chr6:101060989..101063700-chr6:101064166..101066010,2	K562	blood:
43	chr6:101120240..101121939-chr6:101124928..101126557,2	K562	blood:
44	chr6:101066085..101068490-chr6:101073516..101076131,2	K562	blood:
45	chr6:100554526..100556212-chr6:101104828..101106229,8	MCF-7	breast:

(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: 3895 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3895 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12206945	chr6:101018032-101018033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536210891	chr6:101018053-101018054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530961229	chr6:101018093-101018094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543118180	chr6:101018115-101018116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561192012	chr6:101018249-101018250	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528519075	chr6:101018273-101018274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562077230	chr6:101018276-101018277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535550438	chr6:101018305-101018306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76175528	chr6:101018322-101018323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571657857	chr6:101018332-101018333	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114546368	chr6:101018395-101018396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551339402	chr6:101018397-101018398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147149763	chr6:101018451-101018452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78666168	chr6:101018512-101018513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372347250	chr6:101018661-101018662	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140393633	chr6:101018784-101018785	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534399715	chr6:101018836-101018837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552593141	chr6:101018866-101018867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144356711	chr6:101018878-101018879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72939370	chr6:101018990-101018991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545301915	chr6:101019008-101019009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147798789	chr6:101019020-101019021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575810726	chr6:101019031-101019032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116193486	chr6:101019083-101019084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113457625	chr6:101019157-101019158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74553164	chr6:101019266-101019267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9497783	chr6:101019276-101019277	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540726354	chr6:101019338-101019339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565281680	chr6:101019370-101019371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183964093	chr6:101019372-101019373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551666085	chr6:101019373-101019374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569819727	chr6:101019393-101019394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79554873	chr6:101019405-101019406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569030868	chr6:101019453-101019454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142415639	chr6:101019461-101019462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs240775	chr6:101019495-101019496	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs151320388	chr6:101019512-101019513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567116575	chr6:101019548-101019549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11155498	chr6:101019551-101019552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552606230	chr6:101019552-101019553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187700732	chr6:101019676-101019677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538223322	chr6:101019680-101019681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555903621	chr6:101019731-101019732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575540255	chr6:101019741-101019742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557658235	chr6:101019749-101019750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574212207	chr6:101019754-101019755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77040649	chr6:101019778-101019779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78744101	chr6:101019859-101019860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554910627	chr6:101019875-101019876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573427728	chr6:101019890-101019891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100960800-101035000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:100964200-101020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:100965600-101033600	Weak transcription	Ovary	ovary
4	chr6:100978600-101019400	Weak transcription	HMEC	breast
5	chr6:100979800-101018200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:100988000-101019000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:100988200-101018800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:100988200-101035000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:100988200-101035000	Weak transcription	GM12878-XiMat	blood
10	chr6:100988800-101034200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:100989000-101018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:100990600-101018200	Weak transcription	Left Ventricle	heart
13	chr6:101001000-101034000	Weak transcription	Fetal Intestine Large	intestine
14	chr6:101001400-101020000	Weak transcription	Fetal Brain Male	brain
15	chr6:101001600-101034000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:101002000-101033600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:101002400-101027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:101005000-101023400	Weak transcription	Placenta	Placenta
19	chr6:101005200-101033600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:101005400-101018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:101006200-101035400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:101007400-101033600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:101008800-101033600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:101009000-101018200	Weak transcription	HSMM	muscle
25	chr6:101009000-101033600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:101009000-101034600	Weak transcription	NH-A	brain
27	chr6:101009000-101035000	Weak transcription	NHDF-Ad	bronchial
28	chr6:101009000-101035200	Weak transcription	Osteobl	bone
29	chr6:101009000-101065600	Weak transcription	NHEK	skin
30	chr6:101010000-101027600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:101011000-101080800	Weak transcription	HepG2	liver
32	chr6:101011400-101027200	Weak transcription	Psoas Muscle	Psoas
33	chr6:101011400-101035000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:101011600-101034200	Weak transcription	Pancreas	Pancrea
35	chr6:101012800-101033800	Weak transcription	Adipose Nuclei	Adipose
36	chr6:101014000-101027400	Weak transcription	Fetal Kidney	kidney
37	chr6:101014200-101027200	Weak transcription	Liver	Liver
38	chr6:101014200-101027800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:101014400-101022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:101014800-101019800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:101014800-101024400	Weak transcription	Fetal Stomach	stomach
42	chr6:101014800-101033600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:101015400-101020600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:101015800-101049200	Weak transcription	Esophagus	oesophagus
45	chr6:101016200-101019000	Weak transcription	Primary B cells from cord blood	blood
46	chr6:101016200-101026200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:101016400-101018200	Weak transcription	Brain Anterior Caudate	brain
48	chr6:101016400-101065800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:101016800-101018400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:101017000-101018600	Weak transcription	Fetal Muscle Trunk	muscle

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