Variant report

Variant	esv3326185
Chromosome Location	chr6:160697102-160699384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:160697599-160697782	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF143	chr6:160698623-160698778	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:160697625-160697675	SK-N-SH	brain:	n/a
2	chr6:160697625-160697675	NHBE	bronchial:	n/a
3	chr6:160697625-160697675	SKMC	muscle:	n/a
4	chr6:160697625-160697675	HCPEpiC	choroid plexus:	n/a
5	chr6:160697625-160697675	PrEC	prostate:	n/a
6	chr6:160697625-160697675	AG04449	skin:	fetal
7	chr6:160697625-160697675	GM12878	blood:	n/a
8	chr6:160697625-160697675	HRPEpiC	eye:	n/a
9	chr6:160697625-160697675	GM12892	blood:	n/a
10	chr6:160697625-160697675	NH-A	brain:	n/a
11	chr6:160697625-160697675	BJ	skin:	n/a
12	chr6:160697625-160697675	ECC-1	luminal epithelium:	n/a
13	chr6:160697625-160697675	Hepatocyte	liver:	n/a
14	chr6:160697625-160697675	HepG2	liver:	n/a
15	chr6:160697625-160697675	H1-hESC	embryonic stem cell:	embryo
16	chr6:160697625-160697675	A549	lung:	n/a
17	chr6:160697625-160697675	RPTEC	kidney:	n/a
18	chr6:160697625-160697675	HRE	kidney:	n/a
19	chr6:160697625-160697675	SK-N-SH_RA	brain:	n/a
20	chr6:160697625-160697675	U87	brain:	n/a
21	chr6:160697625-160697675	HCM	heart:	n/a
22	chr6:160697625-160697675	MCF-7	breast:	n/a
23	chr6:160697625-160697675	PANC-1	pancreas:	n/a
24	chr6:160697625-160697675	ProgFib	skin:	n/a
25	chr6:160697625-160697675	GM12891	blood:	n/a
26	chr6:160697625-160697675	MCF10A-Er-Src	breast:	n/a
27	chr6:160697625-160697675	HNPCEpiC	eye:	n/a
28	chr6:160697625-160697675	HUVEC	blood vessel:	n/a
29	chr6:160697625-160697675	GM06990	blood:	n/a
30	chr6:160697625-160697675	HRCEpiC	kidney:	n/a
31	chr6:160697625-160697675	ovcar-3	ovarian:	n/a
32	chr6:160697625-160697675	Jurkat	blood:	n/a
33	chr6:160697625-160697675	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:160697625-160697675	K562	blood:	n/a
35	chr6:160697625-160697675	AG04450	lung:	fetal
36	chr6:160697625-160697675	AG10803	skin:	n/a
37	chr6:160697625-160697675	NHDF-neo	bronchial:	n/a
38	chr6:160697625-160697675	Hela-S3	cervix:	n/a
39	chr6:160697625-160697675	LNCaP	prostate:	n/a
40	chr6:160697625-160697675	IMR90	lung:	fetal
41	chr6:160697625-160697675	Caco-2	colon:	n/a
42	chr6:160697625-160697675	SAEC	small airway:	n/a
43	chr6:160697625-160697675	GM19239	blood:	n/a
44	chr6:160697625-160697675	CMK	blood:	n/a
45	chr6:160697625-160697675	PFSK-1	brain:	n/a
46	chr6:160697625-160697675	HL-60	blood:	n/a
47	chr6:160697625-160697675	AG09319	gingival:	n/a
48	chr6:160697625-160697675	T-47D	breast:	n/a
49	chr6:160697625-160697675	SK-N-MC	brain:	n/a
50	chr6:160697625-160697675	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160692844..160695658-chr6:160695903..160698267,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC22A3-1	chr6:160696793-160697162	ENSG00000230234

No data

Variant related genes	Relation type
SLC22A2	TF binding region
SLC22A2	CpG island
ENSG00000230234	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537872610	chr6:160697104-160697105	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs377377510	chr6:160697132-160697133	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs554336935	chr6:160697136-160697137	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs574489590	chr6:160697164-160697165	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534084765	chr6:160697199-160697200	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2297213	chr6:160697208-160697209	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531058827	chr6:160697209-160697210	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554398720	chr6:160697211-160697212	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115826818	chr6:160697228-160697229	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546082148	chr6:160697238-160697239	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574404559	chr6:160697251-160697252	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543571834	chr6:160697252-160697253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576337817	chr6:160697292-160697293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs316036	chr6:160697306-160697307	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562008050	chr6:160697309-160697310	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187609582	chr6:160697324-160697325	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2297212	chr6:160697325-160697326	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113078293	chr6:160697328-160697329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546940742	chr6:160697345-160697346	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369123117	chr6:160697405-160697406	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191023278	chr6:160697427-160697428	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183540784	chr6:160697457-160697458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375161746	chr6:160697478-160697479	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569152323	chr6:160697488-160697489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138042398	chr6:160697517-160697518	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57187107	chr6:160697604-160697605	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548175754	chr6:160697620-160697621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368318859	chr6:160697626-160697627	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532440	chr6:160697628-160697629	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs370448843	chr6:160697686-160697687	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553493293	chr6:160697700-160697701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533452	chr6:160697762-160697763	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557168633	chr6:160697765-160697766	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539673279	chr6:160697804-160697805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556551569	chr6:160697815-160697816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189094311	chr6:160697856-160697857	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80067594	chr6:160697866-160697867	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555728713	chr6:160697876-160697877	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192151291	chr6:160697923-160697924	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541522356	chr6:160697929-160697930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564598751	chr6:160697971-160697972	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62442376	chr6:160697974-160697975	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567926390	chr6:160697976-160697977	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532315406	chr6:160697989-160697990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569100211	chr6:160698001-160698002	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545991749	chr6:160698036-160698037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368707281	chr6:160698045-160698046	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149529072	chr6:160698111-160698112	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146023512	chr6:160698146-160698147	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs3127578	chr6:160698155-160698156	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160695800-160698800	Enhancers	Fetal Muscle Leg	muscle
2	chr6:160696600-160698800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:160696800-160697200	Enhancers	Brain Anterior Caudate	brain
4	chr6:160696800-160697200	Enhancers	Placenta	Placenta
5	chr6:160696800-160697400	Enhancers	Brain Substantia Nigra	brain
6	chr6:160696800-160697600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:160696800-160698600	Enhancers	Psoas Muscle	Psoas
8	chr6:160697000-160697200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:160697000-160697200	Enhancers	Liver	Liver
10	chr6:160697000-160698400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:160697000-160698600	Weak transcription	Gastric	stomach
12	chr6:160697000-160698800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:160697000-160699000	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:160697600-160700000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:160698200-160699200	Enhancers	Fetal Brain Male	brain
16	chr6:160698400-160698800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:160698400-160698800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr6:160698600-160700000	Weak transcription	Psoas Muscle	Psoas
19	chr6:160698800-160699600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:160698800-160699600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:160698800-160699800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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