Variant report

Variant	esv3376857
Chromosome Location	chr6:58776056-58776784
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:58776676..58777225-chr8:72532546..72533088,2	MCF-7	breast:
2	chr3:63980131..63982580-chr6:58776275..58779243,2	MCF-7	breast:
3	chr17:73716896..73718915-chr6:58776651..58778729,2	MCF-7	breast:
4	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
5	chr10:74031778..74033740-chr6:58774757..58776794,2	MCF-7	breast:
6	chr4:26787771..26789874-chr6:58775360..58778093,2	MCF-7	breast:
7	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
8	chr22:32301912..32302764-chr6:58776740..58777661,2	MCF-7	breast:
9	chr20:46135534..46137185-chr6:58775644..58777423,2	MCF-7	breast:
10	chr17:57928094..57930742-chr6:58776120..58778676,4	MCF-7	breast:
11	chr20:17516282..17517977-chr6:58775914..58778767,2	MCF-7	breast:
12	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
13	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
14	chr6:58776120..58778273-chr8:145699925..145701982,2	MCF-7	breast:
15	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
16	chr20:46012525..46013472-chr6:58776071..58776784,2	MCF-7	breast:
17	chr12:80435495..80437852-chr6:58775102..58777367,2	MCF-7	breast:
18	chr20:19348440..19350405-chr6:58776310..58778887,2	MCF-7	breast:
19	chr5:157496471..157496971-chr6:58776705..58777406,2	MCF-7	breast:
20	chr1:201243876..201245779-chr6:58775647..58777227,2	MCF-7	breast:
21	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
22	chr17:56735441..56738187-chr6:58776197..58778735,2	MCF-7	breast:
23	chr22:21356184..21359058-chr6:58776120..58778924,2	MCF-7	breast:
24	chr11:66445363..66446008-chr6:58776703..58777356,2	MCF-7	breast:
25	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
26	chr6:58776657..58777247-chrX:136737324..136737914,2	MCF-7	breast:
27	chr6:58776637..58777632-chr8:18871298..18871912,2	HCT-116	colon:
28	chr6:58775915..58778901-chr8:144691705..144693500,2	MCF-7	breast:
29	chr6:58776711..58777237-chr8:105771574..105772190,2	MCF-7	breast:
30	chr6:31849956..31851616-chr6:58776203..58778751,2	MCF-7	breast:
31	chr5:157496470..157497451-chr6:58776593..58777234,3	MCF-7	breast:
32	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:
33	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
34	chr21:35272607..35275458-chr6:58776178..58778758,2	MCF-7	breast:
35	chr21:9826269..9827015-chr6:58776389..58777037,2	MCF-7	breast:
36	chr2:219259923..219262856-chr6:58776591..58778942,2	MCF-7	breast:
37	chr1:117112641..117113268-chr6:58775753..58776519,2	MCF-7	breast:
38	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
39	chr17:57920187..57922882-chr6:58774753..58776582,2	MCF-7	breast:
40	chr6:58775076..58778073-chr8:103250732..103252303,2	K562	blood:
41	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
42	chr6:58776666..58779159-chr8:125462787..125464378,2	MCF-7	breast:
43	chr1:216349276..216351630-chr6:58776732..58778763,2	MCF-7	breast:
44	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
45	chr6:58776722..58778356-chr8:48323824..48325324,2	MCF-7	breast:
46	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
47	chr17:56707619..56709303-chr6:58776177..58777680,2	MCF-7	breast:
48	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
49	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:
50	chr17:56707689..56709464-chr6:58776179..58779153,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230513	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000132470	chromatin interactions

Extended variants
information (count: 494 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4928487	chr6:58776063-58776064	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs563008991	chr6:58776065-58776066	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs6938166	chr6:58776066-58776067	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs6588728	chr6:58776069-58776070	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs60132493	chr6:58776070-58776071	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs61623650	chr6:58776071-58776072	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs376461597	chr6:58776072-58776073	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs530505357	chr6:58776073-58776074	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs4602737	chr6:58776078-58776079	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs76259580	chr6:58776079-58776080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs139618584	chr6:58776080-58776081	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs78831684	chr6:58776081-58776082	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545910628	chr6:58776082-58776083	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370618561	chr6:58776084-58776085	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs563923487	chr6:58776085-58776086	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs528098551	chr6:58776088-58776089	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs546931056	chr6:58776090-58776091	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs112166448	chr6:58776091-58776092	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs375825916	chr6:58776104-58776105	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs367934023	chr6:58776105-58776106	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs147022888	chr6:58776106-58776107	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs61424948	chr6:58776107-58776108	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs80065138	chr6:58776112-58776113	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs149071296	chr6:58776114-58776115	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs142756757	chr6:58776115-58776116	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs568793081	chr6:58776117-58776118	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs78504812	chr6:58776118-58776119	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs144741557	chr6:58776119-58776120	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs551181657	chr6:58776122-58776123	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs55825946	chr6:58776123-58776124	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs56056448	chr6:58776126-58776127	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs56133739	chr6:58776131-58776132	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs60815294	chr6:58776132-58776133	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs566710068	chr6:58776135-58776136	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs534198487	chr6:58776136-58776137	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs62412788	chr6:58776140-58776141	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs182597828	chr6:58776145-58776146	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs28830889	chr6:58776146-58776147	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs541755113	chr6:58776149-58776150	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs556715156	chr6:58776153-58776154	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs4613847	chr6:58776155-58776156	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs575442608	chr6:58776156-58776157	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs77800900	chr6:58776157-58776158	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs59537906	chr6:58776158-58776159	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs149079713	chr6:58776161-58776162	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs545540812	chr6:58776162-58776163	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs4520033	chr6:58776164-58776165	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs564211592	chr6:58776167-58776168	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs4928489	chr6:58776168-58776169	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs114121596	chr6:58776172-58776173	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:58773400-58776400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr6:58773400-58776600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr6:58773400-58776600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr6:58773400-58776600	ZNF genes & repeats	Gastric	stomach
8	chr6:58773400-58776600	ZNF genes & repeats	Small Intestine	intestine
9	chr6:58773400-58779400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr6:58773400-58779400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:58773400-58779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:58773400-58779400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr6:58773400-58779400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr6:58773400-58779400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr6:58773400-58779400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr6:58773400-58779400	ZNF genes & repeats	Fetal Stomach	stomach
17	chr6:58773400-58779400	ZNF genes & repeats	Left Ventricle	heart
18	chr6:58773600-58776600	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr6:58773600-58776600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:58773600-58779200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
21	chr6:58773600-58779400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
22	chr6:58773600-58779400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr6:58773600-58779400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr6:58773600-58779400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr6:58773600-58779400	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr6:58773600-58779400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr6:58773600-58779400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:58773600-58779400	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr6:58774800-58776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:58774800-58776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:58774800-58776400	Weak transcription	Brain Germinal Matrix	brain
32	chr6:58774800-58776600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:58774800-58776600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:58774800-58776600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:58774800-58776600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr6:58774800-58776600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:58774800-58776600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:58774800-58776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:58774800-58776600	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:58774800-58776600	Weak transcription	Esophagus	oesophagus
41	chr6:58774800-58776600	Weak transcription	Fetal Brain Male	brain
42	chr6:58774800-58776600	Weak transcription	Fetal Heart	heart
43	chr6:58774800-58776600	Weak transcription	Fetal Kidney	kidney
44	chr6:58774800-58776600	Weak transcription	Placenta	Placenta
45	chr6:58774800-58776600	Weak transcription	Lung	lung
46	chr6:58774800-58776600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:58774800-58776600	Weak transcription	Right Atrium	heart
48	chr6:58774800-58776600	Weak transcription	Right Ventricle	heart
49	chr6:58774800-58776600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:58774800-58776600	Weak transcription	Stomach Mucosa	stomach

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