Variant report

Variant	esv1849929
Chromosome Location	chr1:61684084-61714142
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61691124..61693538-chr1:61697594..61700480,2	K562	blood:
2	chr1:61691680..61694705-chr1:61697594..61700756,3	K562	blood:
3	chr1:61703917..61705509-chr1:61705785..61707297,2	K562	blood:
4	chr1:61695940..61697862-chr1:61707751..61709468,2	K562	blood:
5	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
6	chr1:61649257..61651424-chr1:61700130..61703599,3	K562	blood:
7	chr1:61520094..61522677-chr1:61687315..61690312,2	K562	blood:
8	chr1:61687117..61688751-chr1:61709557..61711525,2	K562	blood:
9	chr1:61647828..61650855-chr1:61700131..61703599,3	K562	blood:
10	chr1:61586978..61588687-chr1:61705732..61707786,2	K562	blood:
11	chr1:61710529..61714142-chr1:61715404..61719608,9	K562	blood:
12	chr1:61691680..61694705-chr1:61697594..61700756,3	K562	blood:
13	chr1:61546363..61549423-chr1:61689962..61692895,3	K562	blood:
14	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:
15	chr1:61680034..61681666-chr1:61686739..61689147,2	K562	blood:
16	chr1:61585743..61588547-chr1:61696808..61699066,2	K562	blood:
17	chr1:61703917..61705509-chr1:61705785..61707297,2	K562	blood:
18	chr1:61698276..61700833-chr1:61735388..61737265,2	K562	blood:
19	chr1:61701605..61703264-chr1:61789061..61791484,2	K562	blood:
20	chr1:61687117..61688751-chr1:61709557..61711525,2	K562	blood:
21	chr1:61701203..61703807-chr1:61704252..61706919,4	K562	blood:
22	chr1:61515508..61517530-chr1:61700230..61702122,2	K562	blood:
23	chr1:61685407..61688554-chr1:61690743..61693664,3	K562	blood:
24	chr1:61543393..61545559-chr1:61710850..61712816,2	K562	blood:
25	chr1:61674775..61677797-chr1:61686761..61689585,3	K562	blood:
26	chr1:61676278..61681028-chr1:61681460..61685065,4	K562	blood:
27	chr1:61684478..61689814-chr1:61689911..61696022,10	K562	blood:
28	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
29	chr1:61517584..61519550-chr1:61691438..61693458,2	MCF-7	breast:
30	chr1:61711526..61714321-chr1:61724717..61727346,2	MCF-7	breast:
31	chr1:61685407..61688554-chr1:61690743..61693664,3	K562	blood:
32	chr1:61672323..61674145-chr1:61683601..61686082,2	K562	blood:
33	chr1:61670954..61672679-chr1:61702027..61704538,2	K562	blood:
34	chr1:61514970..61516476-chr1:61686022..61688789,2	K562	blood:
35	chr1:61701203..61703807-chr1:61704252..61706919,4	K562	blood:
36	chr1:61698846..61701799-chr1:61701891..61703968,3	K562	blood:
37	chr1:61695940..61697862-chr1:61707751..61709468,2	K562	blood:
38	chr1:61516306..61517924-chr1:61696860..61698612,2	K562	blood:
39	chr1:61691124..61693538-chr1:61697594..61700480,2	K562	blood:
40	chr1:61706948..61709963-chr1:61716553..61719225,3	K562	blood:
41	chr1:61678184..61681028-chr1:61682728..61685065,2	K562	blood:
42	chr1:61709999..61711668-chr1:61722903..61725455,2	K562	blood:
43	chr1:61698846..61701799-chr1:61701891..61703968,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162599	chromatin interactions
ENSG00000263380	chromatin interactions
ENSG00000237853	chromatin interactions

Extended variants
information (count: 973 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:973 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570782391	chr1:61684087-61684088	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528568101	chr1:61684107-61684108	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190837010	chr1:61684111-61684112	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199560251	chr1:61684137-61684138	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565824899	chr1:61684202-61684203	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536069375	chr1:61684203-61684204	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539630098	chr1:61684280-61684281	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556462581	chr1:61684281-61684282	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs9970140	chr1:61684288-61684289	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566746397	chr1:61684392-61684393	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12734797	chr1:61684518-61684519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182602711	chr1:61684521-61684522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558572014	chr1:61684527-61684528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376736962	chr1:61684533-61684534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576805103	chr1:61684541-61684542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72929847	chr1:61684630-61684631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552796556	chr1:61684733-61684734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs333141	chr1:61684796-61684797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542033064	chr1:61684808-61684809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115928849	chr1:61684850-61684851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11806791	chr1:61684868-61684869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75878548	chr1:61684904-61684905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546119188	chr1:61684908-61684909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397861813	chr1:61684916-61684917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563984815	chr1:61685094-61685095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187732972	chr1:61685114-61685115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547033695	chr1:61685168-61685169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs333140	chr1:61685182-61685183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529889868	chr1:61685187-61685188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548385056	chr1:61685227-61685228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575360051	chr1:61685230-61685231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201752940	chr1:61685247-61685248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545957680	chr1:61685266-61685267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs332817	chr1:61685269-61685270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552551012	chr1:61685276-61685277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367838498	chr1:61685303-61685304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570381001	chr1:61685308-61685309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs333138	chr1:61685310-61685311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139106684	chr1:61685312-61685313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574467711	chr1:61685315-61685316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535199907	chr1:61685317-61685318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148321926	chr1:61685380-61685381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184810849	chr1:61685381-61685382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368330478	chr1:61685386-61685387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369155750	chr1:61685399-61685400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546043461	chr1:61685409-61685410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564637486	chr1:61685460-61685461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112026109	chr1:61685461-61685462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145626357	chr1:61685496-61685497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117158540	chr1:61685498-61685499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20531469	CNVD

Chromatin state (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61669200-61685800	Weak transcription	Fetal Brain Female	brain
2	chr1:61669200-61692400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:61669400-61691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:61669600-61685800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:61669600-61686000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:61669600-61692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:61674200-61686200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:61674800-61685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:61676600-61685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:61676600-61690000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:61677600-61692400	Weak transcription	Esophagus	oesophagus
12	chr1:61677800-61685600	Weak transcription	Fetal Stomach	stomach
13	chr1:61679200-61692200	Weak transcription	NHEK	skin
14	chr1:61679600-61684400	Enhancers	Liver	Liver
15	chr1:61679600-61685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:61679800-61687400	Weak transcription	Fetal Brain Male	brain
17	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:61680800-61687400	Weak transcription	A549	lung
19	chr1:61681800-61686000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:61682000-61686200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:61682000-61687400	Weak transcription	Fetal Lung	lung
22	chr1:61682000-61690200	Weak transcription	Ovary	ovary
23	chr1:61682000-61692400	Weak transcription	Left Ventricle	heart
24	chr1:61682000-61706800	Weak transcription	Gastric	stomach
25	chr1:61682200-61686000	Weak transcription	HepG2	liver
26	chr1:61682200-61691800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:61683000-61684200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:61683200-61684400	ZNF genes & repeats	K562	blood
29	chr1:61683600-61687200	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:61683800-61684200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:61683800-61684200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:61683800-61684200	Enhancers	Psoas Muscle	Psoas
33	chr1:61683800-61685800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:61683800-61686200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:61683800-61692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:61684000-61685600	Weak transcription	Brain Germinal Matrix	brain
37	chr1:61684000-61685800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:61684000-61687400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:61684000-61690000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:61684200-61685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:61684200-61685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:61684200-61686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:61684200-61690200	Weak transcription	Psoas Muscle	Psoas
44	chr1:61684400-61684800	Weak transcription	Liver	Liver
45	chr1:61684400-61692400	Weak transcription	K562	blood
46	chr1:61684800-61685000	Enhancers	Liver	Liver
47	chr1:61685000-61687200	Weak transcription	Liver	Liver
48	chr1:61685000-61688600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:61685600-61686200	Enhancers	Fetal Stomach	stomach
50	chr1:61685600-61687200	Enhancers	Brain Germinal Matrix	brain

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