Variant report

Variant	esv3391848
Chromosome Location	chr6:163748791-163752416
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163750296..163752103-chr6:163834031..163836174,2	MCF-7	breast:
2	chr6:163745590..163748829-chr6:163752310..163756417,4	MCF-7	breast:
3	chr6:163743943..163749523-chr6:163832972..163838830,12	MCF-7	breast:
4	chr6:163751984..163754408-chr6:163756474..163759819,3	K562	blood:
5	chr6:163742095..163749894-chr6:163832230..163837162,13	MCF-7	breast:
6	chr6:163746176..163748803-chr6:163750592..163752123,2	K562	blood:
7	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:
8	chr6:163746176..163748803-chr6:163750592..163752123,2	K562	blood:
9	chr6:163745590..163748829-chr6:163752310..163756417,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112531	chromatin interactions
ENSG00000270419	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537044499	chr6:163748814-163748815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531539654	chr6:163748815-163748816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114190136	chr6:163748838-163748839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs71832962	chr6:163748860-163748861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376395956	chr6:163748861-163748862	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567872638	chr6:163748890-163748891	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75543776	chr6:163748934-163748935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536915063	chr6:163748989-163748990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571567542	chr6:163748994-163748995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572239886	chr6:163749006-163749007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553313873	chr6:163749033-163749034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184565852	chr6:163749078-163749079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532440705	chr6:163749085-163749086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538773729	chr6:163749101-163749102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs188257953	chr6:163749113-163749114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373982602	chr6:163749116-163749117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142762600	chr6:163749117-163749118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560901753	chr6:163749169-163749170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150648528	chr6:163749187-163749188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376512171	chr6:163749193-163749194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114783013	chr6:163749229-163749230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545858682	chr6:163749252-163749253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73603771	chr6:163749262-163749263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532164316	chr6:163749300-163749301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191851476	chr6:163749301-163749302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10945892	chr6:163749302-163749303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376750109	chr6:163749324-163749325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530871721	chr6:163749342-163749343	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550713788	chr6:163749353-163749354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567624319	chr6:163749356-163749357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73603772	chr6:163749373-163749374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547257751	chr6:163749382-163749383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562444127	chr6:163749420-163749421	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566993983	chr6:163749425-163749426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112326266	chr6:163749429-163749430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111373613	chr6:163749443-163749444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575423041	chr6:163749494-163749495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs183579361	chr6:163749525-163749526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554294060	chr6:163749539-163749540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13211088	chr6:163749552-163749553	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs188238896	chr6:163749633-163749634	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs17393817	chr6:163749647-163749648	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560178934	chr6:163749675-163749676	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576679348	chr6:163749707-163749708	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs16894793	chr6:163749708-163749709	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144062994	chr6:163749716-163749717	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530933455	chr6:163749727-163749728	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551032199	chr6:163749746-163749747	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561161311	chr6:163749766-163749767	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs56047813	chr6:163749773-163749774	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
abnormal development	18461090	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163732000-163749600	Weak transcription	Spleen	Spleen
2	chr6:163743400-163749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:163744200-163751000	Weak transcription	Right Atrium	heart
4	chr6:163745000-163753200	Weak transcription	Right Ventricle	heart
5	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
7	chr6:163745800-163754000	Enhancers	Brain Angular Gyrus	brain
8	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
9	chr6:163746600-163749400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:163746600-163750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:163746600-163750800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:163746600-163750800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:163746600-163750800	Weak transcription	NH-A	brain
14	chr6:163746600-163751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:163746600-163751200	Weak transcription	Fetal Heart	heart
16	chr6:163746600-163753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
19	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
20	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:163746800-163751000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:163746800-163751000	Weak transcription	HSMM	muscle
23	chr6:163746800-163754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:163747400-163750800	Weak transcription	A549	lung
25	chr6:163748400-163748800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:163748600-163748800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:163748600-163748800	Enhancers	Esophagus	oesophagus
28	chr6:163748600-163748800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr6:163748600-163749800	Enhancers	Left Ventricle	heart
30	chr6:163748600-163752400	Enhancers	Fetal Muscle Leg	muscle
31	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:163748800-163749000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:163748800-163749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:163748800-163750200	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:163748800-163750800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:163749000-163749200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:163749200-163749400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:163749400-163749600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:163749400-163750000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:163749400-163750000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:163749400-163751000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:163749600-163749800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:163749600-163749800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:163749600-163749800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:163749600-163749800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:163749600-163749800	Enhancers	Spleen	Spleen
47	chr6:163749800-163750600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:163749800-163750800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:163749800-163750800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:163749800-163751000	Weak transcription	Left Ventricle	heart

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