Variant report

Variant	nsv527098
Chromosome Location	chr6:161559040-161565158
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161559206..161561211-chr6:161569331..161570854,2	K562	blood:
2	chr6:161411262..161413892-chr6:161559179..161560764,2	K562	blood:
3	chr6:161561291..161565490-chr6:161565996..161568943,5	K562	blood:
4	chr6:161486463..161488606-chr6:161561664..161563323,2	K562	blood:
5	chr6:161564867..161570084-chr6:161571350..161575451,5	K562	blood:
6	chr6:161412392..161413995-chr6:161559264..161562128,3	K562	blood:
7	chr6:161563822..161565499-chr6:161639180..161641581,2	K562	blood:
8	chr6:161561596..161565261-chr6:161565633..161567932,4	K562	blood:
9	chr6:161561875..161564215-chr6:161569037..161570698,2	MCF-7	breast:
10	chr6:161411883..161414805-chr6:161562442..161565257,3	K562	blood:
11	chr6:161556978..161559406-chr6:161562006..161563705,2	K562	blood:
12	chr10:12609483..12611577-chr6:161556778..161559153,2	K562	blood:
13	chr6:161411612..161414805-chr6:161561243..161565000,4	K562	blood:
14	chr6:161556978..161559406-chr6:161562006..161563705,2	K562	blood:
15	chr6:161559206..161562379-chr6:161569331..161573848,4	K562	blood:
16	chr6:161552329..161556769-chr6:161557901..161562142,6	K562	blood:
17	chr6:161559424..161561284-chr6:161580319..161582815,2	K562	blood:
18	chr6:161561088..161561843-chr6:161794669..161795618,3	K562	blood:
19	chr6:161553132..161555472-chr6:161560642..161562345,2	K562	blood:
20	chr6:161560244..161562389-chr6:161588061..161590978,2	K562	blood:
21	chr6:161561302..161563346-chr6:161636611..161638291,2	K562	blood:
22	chr6:161562867..161565022-chr6:161622480..161624483,2	K562	blood:
23	chr6:161548339..161550868-chr6:161560378..161562313,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000026652	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7754215	chr6:161559040-161559041	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34232394	chr6:161559044-161559045	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527415652	chr6:161559050-161559051	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112313316	chr6:161559051-161559052	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547434237	chr6:161559054-161559055	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369644146	chr6:161559087-161559088	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146424127	chr6:161559111-161559112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570402265	chr6:161559122-161559123	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140868603	chr6:161559146-161559147	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529507693	chr6:161559150-161559151	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372653308	chr6:161559165-161559166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146840733	chr6:161559175-161559176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7754525	chr6:161559180-161559181	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113412922	chr6:161559183-161559184	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558106369	chr6:161559186-161559187	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571554455	chr6:161559217-161559218	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs187450243	chr6:161559257-161559258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569896342	chr6:161559264-161559265	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538464626	chr6:161559367-161559368	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs556178335	chr6:161559378-161559379	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs575978539	chr6:161559406-161559407	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs12195072	chr6:161559434-161559435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555155695	chr6:161559466-161559467	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs192625789	chr6:161559491-161559492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540770098	chr6:161559533-161559534	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564067168	chr6:161559555-161559556	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368330895	chr6:161559601-161559602	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs372599077	chr6:161559613-161559614	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543451616	chr6:161559641-161559642	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550896771	chr6:161559648-161559649	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs28389795	chr6:161559742-161559743	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529647732	chr6:161559743-161559744	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549566032	chr6:161559755-161559756	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566299502	chr6:161559806-161559807	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2314190	chr6:161559807-161559808	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551593919	chr6:161559834-161559835	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547122511	chr6:161559866-161559867	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs571756200	chr6:161559898-161559899	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs75714031	chr6:161559922-161559923	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs184793674	chr6:161559936-161559937	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569601118	chr6:161559937-161559938	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs535379944	chr6:161560028-161560029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs910726	chr6:161560040-161560041	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572154198	chr6:161560060-161560061	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs541258699	chr6:161560061-161560062	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs557563932	chr6:161560071-161560072	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs910725	chr6:161560082-161560083	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543034832	chr6:161560171-161560172	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs140576693	chr6:161560174-161560175	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs60820932	chr6:161560199-161560200	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161534600-161559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:161538200-161559600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:161538600-161559600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:161541400-161562200	Weak transcription	NHDF-Ad	bronchial
6	chr6:161542000-161567200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
8	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
9	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:161546200-161560800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:161548200-161562000	Strong transcription	Fetal Intestine Small	intestine
12	chr6:161548200-161562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:161548400-161561200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
15	chr6:161549200-161565600	Strong transcription	Brain Germinal Matrix	brain
16	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
17	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
18	chr6:161549600-161561200	Weak transcription	NH-A	brain
19	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:161550200-161560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:161550200-161562600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:161550400-161567000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:161550600-161562200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:161551400-161561600	Strong transcription	Primary T cells from cord blood	blood
27	chr6:161551800-161560600	Weak transcription	K562	blood
28	chr6:161553000-161560400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:161553000-161561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:161553000-161564400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:161553200-161560200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:161553200-161569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:161553400-161560400	Strong transcription	Placenta	Placenta
34	chr6:161553400-161560600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:161553400-161562000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:161553400-161571800	Weak transcription	HUVEC	blood vessel
37	chr6:161553600-161559400	Strong transcription	Fetal Intestine Large	intestine
38	chr6:161553800-161560000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:161553800-161561000	Weak transcription	Dnd41	blood
40	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:161554000-161564600	Weak transcription	Liver	Liver
42	chr6:161554000-161574000	Weak transcription	Pancreas	Pancrea
43	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
44	chr6:161554600-161559800	Weak transcription	HSMMtube	muscle
45	chr6:161554800-161559400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
47	chr6:161555200-161567000	Weak transcription	Fetal Lung	lung
48	chr6:161555400-161560400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:161555400-161562000	Weak transcription	Fetal Heart	heart
50	chr6:161555600-161560600	Strong transcription	NHLF	lung

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