Variant report

Variant	nsv605183
Chromosome Location	chr6:163213454-163268904
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	CEBPB	chr6:163265469-163265817	HepG2	liver:	n/a	chr6:163265628-163265639
2	CEBPB	chr6:163218815-163219032	A549	lung:	n/a	n/a
3	CEBPB	chr6:163218870-163218983	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:163265498-163265698	K562	blood:	n/a	chr6:163265628-163265639
5	CEBPB	chr6:163254941-163255044	A549	lung:	n/a	chr6:163254971-163254982
6	CEBPB	chr6:163254840-163255091	HepG2	liver:	n/a	chr6:163254848-163254861 chr6:163254971-163254982
7	CHD1	chr6:163222610-163222659	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:163235253-163235303	HepG2	liver:	n/a	n/a
9	CTCF	chr6:163267140-163267290	HEK293	kidney:	n/a	n/a
10	CTCF	chr6:163267120-163267270	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr6:163267239-163267254	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:163267255-163267271	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:163268068-163268070	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:163267172-163267256	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr6:163267120-163267270	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr6:163267100-163267250	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr6:163268075-163268106	ProgFib	skin:	n/a	n/a
18	CTCF	chr6:163268041-163268062	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:163216680-163216830	AG10803	skin:	n/a	n/a
20	CTCF	chr6:163268023-163268069	ProgFib	skin:	n/a	n/a
21	CTCF	chr6:163267883-163267966	Fibrobl	skin:	n/a	n/a
22	CTCF	chr6:163268013-163268016	ProgFib	skin:	n/a	n/a
23	CTCF	chr6:163267180-163267330	BE2_C	brain:	n/a	n/a
24	CTCF	chr6:163267198-163267234	MCF-7	breast:	n/a	n/a
25	E2F4	chr6:163257914-163258065	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr6:163250382-163250570	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr6:163222532-163222715	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:163231002-163231201	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:163250523-163250656	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:163219696-163219940	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:163219677-163219911	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:163231092-163231142	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:163231021-163231240	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:163219691-163220009	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:163250452-163250723	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA2	chr6:163264979-163265324	A549	lung:	n/a	n/a
37	FOXA2	chr6:163264857-163265385	A549	lung:	n/a	n/a
38	GATA3	chr6:163217791-163217922	SH-SY5Y	brain:	n/a	n/a
39	JUND	chr6:163218834-163219029	HepG2	liver:	n/a	n/a
40	JUND	chr6:163230988-163231198	HepG2	liver:	n/a	chr6:163231119-163231130
41	MAFF	chr6:163240431-163240682	K562	blood:	n/a	chr6:163240512-163240530
42	MAFF	chr6:163240377-163240696	HepG2	liver:	n/a	chr6:163240512-163240530
43	MAFK	chr6:163240425-163240703	IMR90	lung:	n/a	chr6:163240513-163240528
44	MAFK	chr6:163240349-163240700	HepG2	liver:	n/a	chr6:163240513-163240528
45	MAFK	chr6:163240385-163240693	HepG2	liver:	n/a	chr6:163240513-163240528
46	MYC	chr6:163255715-163255861	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr6:163267930-163268131	MCF-7	breast:	n/a	n/a
48	MYC	chr6:163268063-163268064	MCF-7	breast:	n/a	n/a
49	MYC	chr6:163268075-163268076	MCF-7	breast:	n/a	n/a
50	MYC	chr6:163223547-163223575	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:163238180..163239692-chr6:163244197..163245718,2	K562	blood:
2	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:
3	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:
4	chr6:163238180..163239692-chr6:163244197..163245718,2	K562	blood:

Variant related genes	Relation type
PACRG	TF binding region

Extended variants
information (count: 997 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541023976	chr6:163219452-163219453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564178412	chr6:163219473-163219474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577912421	chr6:163219493-163219494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139468647	chr6:163219675-163219676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563523844	chr6:163219694-163219695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144298208	chr6:163219727-163219728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549558358	chr6:163219753-163219754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559145650	chr6:163219760-163219761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371969257	chr6:163219789-163219790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190021498	chr6:163219803-163219804	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551395817	chr6:163219834-163219835	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1041632	chr6:163219891-163219892	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181650715	chr6:163219909-163219910	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs550862200	chr6:163219914-163219915	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376051868	chr6:163219968-163219969	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539092946	chr6:163219979-163219980	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1041633	chr6:163220003-163220004	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs553139242	chr6:163220004-163220005	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187298032	chr6:163220016-163220017	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192189503	chr6:163220072-163220073	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77817924	chr6:163220074-163220075	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557708390	chr6:163220075-163220076	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1041634	chr6:163220087-163220088	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs114666663	chr6:163220096-163220097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140935674	chr6:163220123-163220124	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563593200	chr6:163220132-163220133	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577010240	chr6:163220135-163220136	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78665723	chr6:163220148-163220149	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs180986849	chr6:163220191-163220192	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530629130	chr6:163221061-163221062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544216243	chr6:163221086-163221087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78852635	chr6:163221135-163221136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535809968	chr6:163221151-163221152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369245704	chr6:163221156-163221157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546907730	chr6:163221170-163221171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551053537	chr6:163221190-163221191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189491180	chr6:163230417-163230418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532824948	chr6:163230462-163230463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528597650	chr6:163230554-163230555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142140243	chr6:163230590-163230591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569556138	chr6:163230612-163230613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180737232	chr6:163230647-163230648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375501317	chr6:163230672-163230673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548803655	chr6:163230758-163230759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567811592	chr6:163230790-163230791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531861009	chr6:163230795-163230796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564016100	chr6:163230802-163230803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184062964	chr6:163230830-163230831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145916940	chr6:163230860-163230861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188456679	chr6:163230895-163230896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163219400-163219800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr6:163219600-163219800	Enhancers	Brain Substantia Nigra	brain
3	chr6:163219600-163220000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:163219800-163220200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:163219800-163220200	Active TSS	Brain Substantia Nigra	brain
6	chr6:163220000-163220200	Enhancers	Brain Angular Gyrus	brain
7	chr6:163221000-163221200	Enhancers	Brain Substantia Nigra	brain
8	chr6:163230400-163230800	Weak transcription	Pancreas	Pancrea
9	chr6:163230800-163231200	ZNF genes & repeats	Pancreas	Pancrea
10	chr6:163230800-163238400	Weak transcription	Gastric	stomach
11	chr6:163231200-163237800	Weak transcription	Pancreas	Pancrea
12	chr6:163232600-163240000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:163235200-163235600	Weak transcription	Brain Anterior Caudate	brain
14	chr6:163235200-163236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:163235600-163236000	Active TSS	Brain Anterior Caudate	brain
16	chr6:163235600-163236200	Enhancers	Brain Hippocampus Middle	brain
17	chr6:163236000-163242000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:163236200-163241000	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:163237800-163238600	ZNF genes & repeats	Pancreas	Pancrea
20	chr6:163238000-163238200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:163238000-163238600	Enhancers	NHDF-Ad	bronchial
22	chr6:163238200-163238400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:163238400-163238600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:163238400-163238600	Enhancers	Gastric	stomach
25	chr6:163240600-163243000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:163241000-163241800	Enhancers	Brain Hippocampus Middle	brain
27	chr6:163241400-163242200	Enhancers	Fetal Brain Female	brain
28	chr6:163241400-163242400	Enhancers	Brain Angular Gyrus	brain
29	chr6:163241800-163242200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:163241800-163242200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:163241800-163242600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:163241800-163242800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:163241800-163242800	Enhancers	Fetal Brain Male	brain
34	chr6:163242000-163242400	Enhancers	Brain Anterior Caudate	brain
35	chr6:163242200-163242400	Enhancers	Brain Substantia Nigra	brain
36	chr6:163242200-163242800	Enhancers	Brain Germinal Matrix	brain
37	chr6:163242200-163243000	Active TSS	Brain Hippocampus Middle	brain
38	chr6:163242400-163242600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr6:163242400-163242800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr6:163242400-163243000	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:163242400-163248400	Weak transcription	Brain Angular Gyrus	brain
42	chr6:163242600-163243000	Active TSS	Brain Anterior Caudate	brain
43	chr6:163242800-163243000	Active TSS	Brain Substantia Nigra	brain
44	chr6:163243000-163245000	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:163243000-163245400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:163243000-163245400	Weak transcription	Brain Substantia Nigra	brain
47	chr6:163243000-163245600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:163243200-163243400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr6:163243400-163245600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:163245000-163245600	Enhancers	Brain Hippocampus Middle	brain

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