Variant report

Variant	nsv965775
Chromosome Location	chr6:143647477-143649850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:143649460-143649610	SAEC	small airway:	n/a	n/a
2	FOS	chr6:143649670-143650968	MCF10A-Er-Src	breast:	n/a	chr6:143650132-143650141 chr6:143650133-143650140 chr6:143650131-143650141 chr6:143650130-143650141 chr6:143650130-143650142 chr6:143650132-143650140
3	FOS	chr6:143649004-143649021	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA2	chr6:143646401-143647609	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr6:143649753-143650641	MCF-7	breast:	n/a	chr6:143649848-143649859
6	GATA3	chr6:143649797-143650643	SK-N-SH	brain:	n/a	chr6:143649848-143649859
7	JUND	chr6:143649802-143650826	SK-N-SH	brain:	n/a	chr6:143650132-143650141 chr6:143650133-143650140 chr6:143650130-143650141 chr6:143650131-143650141 chr6:143650130-143650142 chr6:143650132-143650140
8	JUND	chr6:143649829-143650412	SK-N-SH	brain:	n/a	chr6:143650132-143650141 chr6:143650133-143650140 chr6:143650130-143650141 chr6:143650131-143650141 chr6:143650130-143650142 chr6:143650132-143650140
9	MYC	chr6:143649632-143649701	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr6:143649834-143650420	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:143649530-143650862	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:143649487-143649673	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr6:143649844-143650501	MCF-7	breast:	n/a	n/a
14	TCF12	chr6:143649831-143650412	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr6:143649834-143650554	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143640797..143643763-chr6:143645649..143648147,2	K562	blood:
2	chr6:143265833..143268533-chr6:143649356..143651569,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEX3-2	chr6:143648412-143648792	NONHSAT115342

Variant related genes	Relation type
ENSG00000216642	TF binding region
ENSG00000010818	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571335294	chr6:143647486-143647487	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560506893	chr6:143647652-143647653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527933276	chr6:143647659-143647660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9390083	chr6:143647665-143647666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544492647	chr6:143647666-143647667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547818977	chr6:143647749-143647750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531295985	chr6:143647768-143647769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573287229	chr6:143647778-143647779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75350744	chr6:143647820-143647821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571246433	chr6:143647821-143647822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538540379	chr6:143647822-143647823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554076133	chr6:143647838-143647839	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565533537	chr6:143647864-143647865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9376744	chr6:143647931-143647932	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112423069	chr6:143647951-143647952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573813947	chr6:143648033-143648034	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190920555	chr6:143648048-143648049	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141613800	chr6:143648050-143648051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78908498	chr6:143648052-143648053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150539951	chr6:143648326-143648327	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560891731	chr6:143648329-143648330	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527842712	chr6:143648330-143648331	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115860488	chr6:143648332-143648333	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139534207	chr6:143648366-143648367	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117061372	chr6:143648371-143648372	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549879591	chr6:143648386-143648387	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201191456	chr6:143648400-143648401	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564716282	chr6:143648401-143648402	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201150759	chr6:143648402-143648403	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532179163	chr6:143648403-143648404	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540175024	chr6:143648405-143648406	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149686424	chr6:143648415-143648416	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565647085	chr6:143648479-143648480	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536006963	chr6:143648490-143648491	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs548003634	chr6:143648491-143648492	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569543418	chr6:143648508-143648509	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs183444888	chr6:143648509-143648510	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185928555	chr6:143648511-143648512	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs577956439	chr6:143648544-143648545	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs146619693	chr6:143648548-143648549	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs76347294	chr6:143648554-143648555	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs140123216	chr6:143648575-143648576	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543369232	chr6:143648613-143648614	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs368451735	chr6:143648691-143648692	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577747853	chr6:143648718-143648719	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs59958506	chr6:143648753-143648754	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543148353	chr6:143648788-143648789	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs369349026	chr6:143648833-143648834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34603415	chr6:143648834-143648835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79106008	chr6:143648846-143648847	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143642600-143675600	Weak transcription	Left Ventricle	heart
2	chr6:143643800-143653600	Weak transcription	Ovary	ovary
3	chr6:143643800-143661200	Weak transcription	Aorta	Aorta
4	chr6:143644600-143648600	Enhancers	NHEK	skin
5	chr6:143644600-143650400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:143644800-143652200	Enhancers	HMEC	breast
7	chr6:143645000-143648200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:143645000-143683200	Weak transcription	Pancreas	Pancrea
9	chr6:143645200-143656800	Weak transcription	Psoas Muscle	Psoas
10	chr6:143645400-143647800	Weak transcription	Liver	Liver
11	chr6:143645400-143648400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:143645600-143647600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:143645800-143653600	Weak transcription	Fetal Stomach	stomach
14	chr6:143645800-143655600	Weak transcription	Fetal Brain Female	brain
15	chr6:143646000-143647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:143646000-143647600	Enhancers	HSMMtube	muscle
17	chr6:143646000-143647600	Enhancers	NHDF-Ad	bronchial
18	chr6:143646000-143664000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:143646200-143647600	Enhancers	HSMM	muscle
20	chr6:143646200-143647600	Enhancers	HUVEC	blood vessel
21	chr6:143646200-143647600	Enhancers	Osteobl	bone
22	chr6:143646800-143650400	Weak transcription	Hela-S3	cervix
23	chr6:143647200-143654200	Weak transcription	HepG2	liver
24	chr6:143647200-143657400	Weak transcription	NHLF	lung
25	chr6:143647400-143650200	Weak transcription	NH-A	brain
26	chr6:143647400-143654000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:143647400-143658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:143647600-143649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:143647600-143650200	Weak transcription	HUVEC	blood vessel
30	chr6:143647600-143650200	Weak transcription	NHDF-Ad	bronchial
31	chr6:143647600-143654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:143647800-143648600	Strong transcription	Liver	Liver
33	chr6:143648200-143648800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:143648400-143648800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:143648600-143648800	Genic enhancers	NHEK	skin
36	chr6:143648600-143654200	Weak transcription	Liver	Liver
37	chr6:143648800-143649200	Enhancers	NHEK	skin
38	chr6:143648800-143651400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:143648800-143652200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:143649200-143649400	Genic enhancers	NHEK	skin
41	chr6:143649400-143652400	Enhancers	NHEK	skin
42	chr6:143649800-143650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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