Variant report

Variant	esv2763563
Chromosome Location	chr1:76229839-76245374
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76231785..76234506-chr1:76257045..76259651,2	K562	blood:
2	chr1:76234782..76236284-chr1:76243274..76245425,2	K562	blood:
3	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:
4	chr1:76189616..76192216-chr1:76229910..76232221,2	K562	blood:
5	chr1:76227948..76230209-chr1:76256987..76259479,2	K562	blood:
6	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:
7	chr1:76234782..76236284-chr1:76243274..76245425,2	K562	blood:
8	chr1:76189779..76193435-chr1:76229737..76232893,5	K562	blood:
9	chr1:76236456..76238614-chr1:76251949..76253787,2	K562	blood:
10	chr1:76243173..76245445-chr1:76250415..76252105,2	MCF-7	breast:
11	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
12	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:
13	chr1:76216562..76219255-chr1:76235194..76236750,2	K562	blood:
14	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
15	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
16	chr1:76226797..76230209-chr1:76256987..76259479,3	K562	blood:
17	chr1:76237665..76239915-chr1:76250102..76252794,2	MCF-7	breast:
18	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
19	chr1:76235199..76237573-chr1:76250494..76252848,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201487	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000137955	chromatin interactions
ENSG00000178193	chromatin interactions
ENSG00000207241	chromatin interactions
ENSG00000206620	chromatin interactions

Extended variants
information (count: 609 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139745982	chr1:76229841-76229842	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs188426196	chr1:76229863-76229864	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs568296760	chr1:76229873-76229874	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs535115730	chr1:76229901-76229902	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574971815	chr1:76229948-76229949	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs113259308	chr1:76229955-76229956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs34303526	chr1:76229973-76229974	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs397719522	chr1:76229978-76229979	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs397829594	chr1:76229979-76229980	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs565687998	chr1:76229983-76229984	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs539521092	chr1:76230033-76230034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs558426870	chr1:76230035-76230036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs146606975	chr1:76230157-76230158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs115080055	chr1:76230159-76230160	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs555792822	chr1:76230204-76230205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs574263853	chr1:76230212-76230213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs367670687	chr1:76230231-76230232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs12136754	chr1:76230232-76230233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559675523	chr1:76230257-76230258	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs77506458	chr1:76230302-76230303	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs181101290	chr1:76230340-76230341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs559329690	chr1:76230393-76230394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs545009273	chr1:76230402-76230403	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs184499889	chr1:76230467-76230468	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs549909833	chr1:76230484-76230485	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs189429239	chr1:76230499-76230500	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs529847676	chr1:76230503-76230504	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs547986282	chr1:76230509-76230510	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs58587824	chr1:76230518-76230519	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs141759346	chr1:76230522-76230523	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs1770510	chr1:76230523-76230524	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs182334282	chr1:76230525-76230526	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs187206921	chr1:76230565-76230566	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs535297398	chr1:76230567-76230568	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs565658361	chr1:76230588-76230589	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs34288962	chr1:76230596-76230597	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs376775001	chr1:76230597-76230598	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs116592348	chr1:76230606-76230607	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs551524524	chr1:76230644-76230645	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs569722976	chr1:76230693-76230694	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs537680390	chr1:76230740-76230741	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs35480442	chr1:76230752-76230753	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs201610729	chr1:76230804-76230805	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs6675212	chr1:76230829-76230830	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190030342	chr1:76230916-76230917	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs181496699	chr1:76230952-76230953	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs370526141	chr1:76230985-76230986	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs61799987	chr1:76230998-76230999	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs553357003	chr1:76231007-76231008	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs577636838	chr1:76231011-76231012	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
2	chr1:76208800-76231400	Weak transcription	A549	lung
3	chr1:76208800-76231400	Weak transcription	NHEK	skin
4	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
5	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
6	chr1:76209000-76230800	Weak transcription	NHLF	lung
7	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
8	chr1:76211600-76230800	Weak transcription	HMEC	breast
9	chr1:76217600-76231400	Weak transcription	Osteobl	bone
10	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
12	chr1:76221200-76231400	Weak transcription	Gastric	stomach
13	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
17	chr1:76221400-76231200	Weak transcription	NH-A	brain
18	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
19	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:76221600-76230800	Weak transcription	Lung	lung
22	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
23	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
25	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
27	chr1:76221600-76231400	Weak transcription	Ovary	ovary
28	chr1:76221600-76231400	Weak transcription	HSMM	muscle
29	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
31	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
34	chr1:76221800-76230000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
36	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
37	chr1:76222000-76230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:76222000-76230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:76222000-76231000	Weak transcription	Fetal Lung	lung
40	chr1:76222000-76231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:76222000-76231600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:76222000-76233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:76222200-76231600	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:76224200-76231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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