Variant report

Variant	nsv517253
Chromosome Location	chr6:143953672-143975157
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143966000..143968139-chr6:143973368..143975325,2	MCF-7	breast:
2	chr6:143958411..143960649-chr6:143968320..143970149,2	K562	blood:
3	chr6:143958411..143960649-chr6:143968320..143970149,2	K562	blood:
4	chr6:143965764..143968046-chr6:144327940..144330274,2	K562	blood:
5	chr6:143959010..143961710-chr6:144384199..144386723,2	K562	blood:
6	chr6:143966000..143968139-chr6:143973368..143975325,2	MCF-7	breast:
7	chr6:143949730..143952887-chr6:143954270..143956854,3	K562	blood:
8	chr6:143959369..143961139-chr6:144152997..144155782,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118495	chromatin interactions

Extended variants
information (count: 745 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12524707	chr6:143953672-143953673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530283563	chr6:143953734-143953735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540819071	chr6:143953822-143953823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111729954	chr6:143953864-143953865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146476550	chr6:143953941-143953942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543823926	chr6:143953980-143953981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192873263	chr6:143954000-143954001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113232039	chr6:143954009-143954010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533256165	chr6:143954045-143954046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149081482	chr6:143954074-143954075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367714529	chr6:143954130-143954131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560383739	chr6:143954147-143954148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34462348	chr6:143954169-143954170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527538448	chr6:143954189-143954190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56392216	chr6:143954234-143954235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183889811	chr6:143954240-143954241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114731741	chr6:143954265-143954266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551017177	chr6:143954301-143954302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569235827	chr6:143954379-143954380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539812954	chr6:143954392-143954393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558214559	chr6:143954412-143954413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13200953	chr6:143954419-143954420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539011705	chr6:143954430-143954431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534164221	chr6:143954474-143954475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574556143	chr6:143954486-143954487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573427151	chr6:143954492-143954493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543854265	chr6:143954519-143954520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555746377	chr6:143954537-143954538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143199897	chr6:143954579-143954580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531225420	chr6:143954582-143954583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544983753	chr6:143954590-143954591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187080172	chr6:143954666-143954667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191088692	chr6:143954668-143954669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542859557	chr6:143954713-143954714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561035634	chr6:143954816-143954817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529416406	chr6:143954829-143954830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552318595	chr6:143954830-143954831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373526959	chr6:143954895-143954896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566139852	chr6:143954980-143954981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534815135	chr6:143954985-143954986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569332968	chr6:143955030-143955031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533200928	chr6:143955054-143955055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553960808	chr6:143955055-143955056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551738041	chr6:143955095-143955096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567069537	chr6:143955097-143955098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534196770	chr6:143955116-143955117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183773521	chr6:143955147-143955148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567477612	chr6:143955218-143955219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12196002	chr6:143955235-143955236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12215924	chr6:143955236-143955237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143939000-143955800	Weak transcription	Stomach Mucosa	stomach
3	chr6:143942200-143955600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:143947400-143955000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:143947400-143955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:143947800-143955000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:143949800-143955000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:143951200-143955600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:143953800-143954000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:143954400-143958200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:143955000-143955800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:143955000-143955800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:143955000-143956600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:143955200-143955800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:143955200-143956000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:143955200-143956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:143955200-143956200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:143955400-143956000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:143955400-143956200	Enhancers	NHEK	skin
21	chr6:143955600-143955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:143955600-143955800	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:143955600-143955800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:143955600-143956000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:143955600-143956000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:143955600-143956000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:143955600-143956000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:143955600-143956200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:143955600-143956200	Enhancers	HMEC	breast
30	chr6:143955800-143956000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:143955800-143956000	Enhancers	Stomach Mucosa	stomach
32	chr6:143955800-143967200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:143956000-143958600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:143956000-143963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:143956000-143965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:143956000-143967600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:143956000-143973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:143956200-143958000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:143956200-143958600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:143956600-143960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:143957800-143958200	Weak transcription	Right Atrium	heart
42	chr6:143958000-143958200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:143958000-143958400	Enhancers	Lung	lung
44	chr6:143958000-143958400	Enhancers	HUVEC	blood vessel
45	chr6:143958000-143959200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:143958200-143958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:143958200-143959000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:143958200-143959200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:143958200-143959200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:143958200-143959200	Enhancers	Right Atrium	heart

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