Variant report

Variant	nsv546585
Chromosome Location	chr1:76826279-77042405
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76871350..76874295-chr1:76994896..76997570,2	K562	blood:
2	chr1:76885764..76887919-chr1:76891776..76893368,2	K562	blood:
3	chr1:76884483..76887341-chr1:76890524..76892236,2	MCF-7	breast:
4	chr1:76871350..76874295-chr1:76994896..76997570,2	K562	blood:
5	chr1:76870428..76873153-chr1:76875050..76877438,2	K562	blood:
6	chr1:76870428..76873153-chr1:76875050..76877438,2	K562	blood:
7	chr1:76885764..76887919-chr1:76891776..76893368,2	K562	blood:
8	chr1:76880275..76881877-chr1:76884344..76886565,2	K562	blood:
9	chr1:76884483..76887341-chr1:76890524..76892236,2	MCF-7	breast:
10	chr1:76756888..76759692-chr1:76896597..76899350,2	K562	blood:
11	chr1:76880275..76881877-chr1:76884344..76886565,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGK-4	chr1:76996553-76996677	NONHSAT004013
2	lnc-PIGK-4	chr1:77017263-77017540	NONHSAT004013
3	lnc-PIGK-4	chr1:76996397-76996441	NONHSAT004013

No data

Extended variants
information (count: 6736 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:6736 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7524886	chr1:76826279-76826280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143836286	chr1:76826315-76826316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377126227	chr1:76826319-76826320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147234208	chr1:76826376-76826377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555427938	chr1:76826387-76826388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559061065	chr1:76826432-76826433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572238184	chr1:76826494-76826495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72675996	chr1:76826516-76826517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377061543	chr1:76826522-76826523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140027895	chr1:76826543-76826544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556272708	chr1:76826583-76826584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17098830	chr1:76826592-76826593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17627406	chr1:76826643-76826644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77118554	chr1:76826674-76826675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375851653	chr1:76826679-76826680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192728231	chr1:76826693-76826694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76041321	chr1:76826743-76826744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564589544	chr1:76826748-76826749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35297377	chr1:76826749-76826750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1570824	chr1:76826752-76826753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544238760	chr1:76826774-76826775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562332234	chr1:76826799-76826800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12737993	chr1:76826830-76826831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554967163	chr1:76826841-76826842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548573153	chr1:76826851-76826852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369009526	chr1:76826878-76826879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35673997	chr1:76826908-76826909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567070444	chr1:76826950-76826951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527848622	chr1:76826992-76826993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552799410	chr1:76826998-76826999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570997875	chr1:76827024-76827025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200613458	chr1:76827036-76827037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556549741	chr1:76827052-76827053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568332207	chr1:76827081-76827082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373249834	chr1:76827135-76827136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73004230	chr1:76827189-76827190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73004234	chr1:76827223-76827224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12734622	chr1:76827250-76827251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12753434	chr1:76827383-76827384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546058315	chr1:76827411-76827412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144799762	chr1:76827412-76827413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559655039	chr1:76827426-76827427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11162131	chr1:76827489-76827490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562525274	chr1:76827514-76827515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34952974	chr1:76827528-76827529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66662991	chr1:76827529-76827530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566873933	chr1:76827545-76827546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142910351	chr1:76827555-76827556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542519195	chr1:76827608-76827609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183947553	chr1:76827620-76827621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76817800-76829400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:76817800-76832200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76828000-76828200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76828000-76828600	Enhancers	Fetal Intestine Large	intestine
5	chr1:76828200-76828600	Enhancers	Fetal Intestine Small	intestine
6	chr1:76831600-76832400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:76831600-76832800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:76831800-76834400	Enhancers	Fetal Lung	lung
9	chr1:76832200-76832800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:76832400-76833200	Enhancers	Small Intestine	intestine
11	chr1:76832400-76833200	Enhancers	HUVEC	blood vessel
12	chr1:76832800-76849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:76833000-76833200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:76833000-76833200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:76833000-76833200	Enhancers	Fetal Stomach	stomach
16	chr1:76833200-76834200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:76833200-76847400	Weak transcription	Fetal Stomach	stomach
18	chr1:76833800-76834000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:76834200-76834600	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:76837400-76837600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:76837600-76838000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:76837600-76838000	Enhancers	Ovary	ovary
23	chr1:76838000-76839000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:76838800-76840000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:76839000-76840000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:76839000-76840200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:76839200-76839800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:76839200-76839800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:76839200-76840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:76839200-76840000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:76839200-76840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:76839200-76840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:76839600-76840000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:76839800-76845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:76840000-76845000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:76840000-76845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:76840000-76846600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:76840000-76847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:76840000-76847200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:76845000-76846000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:76845000-76847600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:76845200-76845800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:76845400-76845600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:76845400-76845600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:76845600-76847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:76845800-76846000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:76845800-76846800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:76846000-76846800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:76846000-76847200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:76846600-76847400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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