Variant report

Variant	esv3402710
Chromosome Location	chr6:58772493-58780166
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:146)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:146 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:35272607..35275458-chr6:58776178..58778758,2	MCF-7	breast:
2	chr13:20943879..20946266-chr6:58777671..58779217,2	MCF-7	breast:
3	chr6:27805995..27806602-chr6:58778107..58778767,2	MCF-7	breast:
4	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
5	chr6:58776120..58778273-chr8:145699925..145701982,2	MCF-7	breast:
6	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
7	chr1:9910788..9913768-chr6:58778329..58780695,2	MCF-7	breast:
8	chr2:135217803..135218666-chr6:58777553..58778353,2	MCF-7	breast:
9	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
10	chr11:75291642..75294590-chr6:58777397..58779135,2	MCF-7	breast:
11	chr19:35488627..35490321-chr6:58777408..58779728,2	MCF-7	breast:
12	chr6:58777390..58779179-chr6:133135024..133136911,2	MCF-7	breast:
13	chr14:77757334..77757890-chr6:58776828..58777663,2	MCF-7	breast:
14	chr16:73430630..73432387-chr6:58777761..58779339,2	MCF-7	breast:
15	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
16	chr6:58775915..58778901-chr8:144691705..144693500,2	MCF-7	breast:
17	chr17:57920187..57922882-chr6:58774753..58776582,2	MCF-7	breast:
18	chr6:58776722..58778356-chr8:48323824..48325324,2	MCF-7	breast:
19	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
20	chr20:46135534..46137185-chr6:58775644..58777423,2	MCF-7	breast:
21	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
22	chr6:58776711..58777237-chr8:105771574..105772190,2	MCF-7	breast:
23	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
24	chr14:19023553..19024073-chr6:58778553..58779079,2	MCF-7	breast:
25	chr1:44683359..44684029-chr6:58777311..58778221,2	MCF-7	breast:
26	chr6:58778318..58779144-chr9:130843661..130844171,2	MCF-7	breast:
27	chr15:50229689..50230313-chr6:58776456..58777229,2	MCF-7	breast:
28	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
29	chr20:52815826..52816411-chr6:58777180..58778164,2	MCF-7	breast:
30	chr17:56707689..56709464-chr6:58776179..58779153,2	MCF-7	breast:
31	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:
32	chr11:58678524..58679504-chr6:58777166..58777745,2	MCF-7	breast:
33	chr6:58777333..58777900-chr8:122346827..122347447,2	MCF-7	breast:
34	chr17:57930610..57932922-chr6:58777438..58780644,3	MCF-7	breast:
35	chr3:90451071..90451591-chr6:58777202..58777887,2	MCF-7	breast:
36	chr2:109819769..109820303-chr6:58776869..58777442,2	MCF-7	breast:
37	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
38	chr6:58776890..58777662-chr7:5569763..5570677,2	Hela-S3	cervix:
39	chr17:62622662..62623234-chr6:58778443..58779436,2	MCF-7	breast:
40	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
41	chr6:58778355..58778904-chrX:56755266..56755790,2	MCF-7	breast:
42	chr6:49499719..49500373-chr6:58777827..58778441,2	MCF-7	breast:
43	chr20:60877312..60877975-chr6:58777171..58777835,2	MCF-7	breast:
44	chr17:56736044..56736561-chr6:58778407..58779097,2	MCF-7	breast:
45	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
46	chr1:216349276..216351630-chr6:58776732..58778763,2	MCF-7	breast:
47	chr3:16360548..16361058-chr6:58778316..58779058,2	MCF-7	breast:
48	chr6:58775076..58778073-chr8:103250732..103252303,2	K562	blood:
49	chr11:58677524..58679024-chr6:58777164..58778728,2	K562	blood:
50	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000065135	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000140553	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000248278	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000103528	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000206754	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000255326	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000204272	chromatin interactions
ENSG00000185158	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000212017	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000268858	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000112306	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000026103	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000089351	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 3245 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3245 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567905353	chr6:58772499-58772500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111314609	chr6:58772506-58772507	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs200469093	chr6:58772520-58772521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201498565	chr6:58772526-58772527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202241041	chr6:58772548-58772549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563387362	chr6:58772557-58772558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530853626	chr6:58772562-58772563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12528949	chr6:58772564-58772565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570606159	chr6:58772573-58772574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576717260	chr6:58772581-58772582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534556392	chr6:58772593-58772594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546281954	chr6:58772594-58772595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116258357	chr6:58772599-58772600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150454073	chr6:58772611-58772612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556940273	chr6:58772613-58772614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199615953	chr6:58772617-58772618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569415548	chr6:58772628-58772629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540110720	chr6:58772654-58772655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141406421	chr6:58772662-58772663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4507621	chr6:58772665-58772666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540867539	chr6:58772666-58772667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555855269	chr6:58772670-58772671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145010336	chr6:58772671-58772672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138794838	chr6:58772672-58772673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9500404	chr6:58772684-58772685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374593346	chr6:58772693-58772694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142043388	chr6:58772697-58772698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200315086	chr6:58772702-58772703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76391888	chr6:58772712-58772713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12664277	chr6:58772720-58772721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183581340	chr6:58772722-58772723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148110770	chr6:58772740-58772741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567788943	chr6:58772741-58772742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141751801	chr6:58772743-58772744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550438723	chr6:58772749-58772750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201483568	chr6:58772750-58772751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568814052	chr6:58772756-58772757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182541789	chr6:58772757-58772758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554994081	chr6:58772758-58772759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201328228	chr6:58772766-58772767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186913635	chr6:58772779-58772780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188179999	chr6:58772792-58772793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563208889	chr6:58772795-58772796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150556005	chr6:58772796-58772797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140630128	chr6:58772797-58772798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374056286	chr6:58772806-58772807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544674903	chr6:58772823-58772824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77064847	chr6:58772824-58772825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199602687	chr6:58772830-58772831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9500405	chr6:58772831-58772832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
3	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:58771000-58773400	Weak transcription	Liver	Liver
6	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
7	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:58773400-58773600	Active TSS	Aorta	Aorta
9	chr6:58773400-58773600	Active TSS	Ovary	ovary
10	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
11	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
13	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
16	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
18	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
19	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
22	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
23	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
30	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
33	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
37	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
38	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
40	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:58773400-58776400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr6:58773400-58776600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr6:58773400-58776600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr6:58773400-58776600	ZNF genes & repeats	Gastric	stomach
47	chr6:58773400-58776600	ZNF genes & repeats	Small Intestine	intestine
48	chr6:58773400-58779400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr6:58773400-58779400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:58773400-58779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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