Variant report

Variant	nsv876853
Chromosome Location	chr3:60420665-60512889
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
2	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
3	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
4	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
5	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
6	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
7	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
8	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
9	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
10	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
11	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
12	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
13	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
14	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
15	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
16	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
17	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
18	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
19	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
20	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
21	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
22	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
23	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
24	chr3:60418409..60420748-chr3:60421749..60423425,2	MCF-7	breast:
25	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
26	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
27	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
28	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
29	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:

No data

Extended variants
information (count: 2247 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs241688	chr3:60420665-60420666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143619081	chr3:60420684-60420685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528875425	chr3:60420697-60420698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539688303	chr3:60420742-60420743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371728319	chr3:60420774-60420775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376312048	chr3:60420778-60420779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370444578	chr3:60420779-60420780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182663253	chr3:60420790-60420791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576630255	chr3:60420829-60420830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186938408	chr3:60420846-60420847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77778009	chr3:60420859-60420860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573698209	chr3:60420863-60420864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191264669	chr3:60420879-60420880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559461518	chr3:60420998-60420999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572188635	chr3:60421001-60421002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6766857	chr3:60421024-60421025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115932871	chr3:60421028-60421029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116193573	chr3:60421064-60421065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2734377	chr3:60421094-60421095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561622077	chr3:60421095-60421096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528947047	chr3:60421118-60421119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2594250	chr3:60421119-60421120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs565673889	chr3:60421139-60421140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530160744	chr3:60421150-60421151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146807791	chr3:60421158-60421159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185566050	chr3:60421163-60421164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543300926	chr3:60421176-60421177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563451573	chr3:60421178-60421179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199583825	chr3:60421186-60421187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386661485	chr3:60421191-60421192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77770554	chr3:60421192-60421193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555684814	chr3:60421220-60421221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77120193	chr3:60421221-60421222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190519401	chr3:60421247-60421248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192931811	chr3:60421248-60421249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148538145	chr3:60421255-60421256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545501434	chr3:60421284-60421285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185432340	chr3:60421287-60421288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117648780	chr3:60421299-60421300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142900503	chr3:60421314-60421315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112156190	chr3:60421345-60421346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141068392	chr3:60421351-60421352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549724095	chr3:60421402-60421403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568067154	chr3:60421432-60421433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202053099	chr3:60421445-60421446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541057546	chr3:60421451-60421452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146901103	chr3:60421470-60421471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373196022	chr3:60421517-60421518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551456388	chr3:60421525-60421526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553444172	chr3:60421526-60421527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60420200-60421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:60420400-60430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:60420600-60421000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:60420600-60421000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:60420600-60421200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:60420600-60421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:60420800-60421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:60425400-60426000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:60425400-60426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:60425400-60426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:60425600-60426000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:60426400-60427000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:60426600-60427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:60430600-60430800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:60430600-60431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:60430600-60431800	Enhancers	NHEK	skin
17	chr3:60430800-60431000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:60430800-60431200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:60430800-60431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:60430800-60431400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:60430800-60431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:60430800-60432200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:60431000-60431400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:60431000-60431800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:60431000-60434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:60431400-60431600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:60432000-60432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:60434200-60435000	Enhancers	Fetal Stomach	stomach
29	chr3:60434200-60435000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr3:60434800-60435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:60434800-60435200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:60439000-60439400	Enhancers	Fetal Intestine Large	intestine
33	chr3:60441800-60442400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr3:60442000-60442400	Enhancers	Primary T cells from cord blood	blood
35	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
38	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle
39	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
41	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
42	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
44	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
45	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:60455000-60455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:60455400-60458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:60455600-60458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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