Variant report

Variant	nsv818777
Chromosome Location	chr1:10638604-10643197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:
2	chr1:10629269..10631572-chr1:10641133..10643624,2	K562	blood:
3	chr1:10622081..10624385-chr1:10637309..10640742,3	K562	blood:
4	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:
5	chr1:10632331..10635200-chr1:10638262..10640541,2	K562	blood:
6	chr1:10641205..10642725-chr11:207100..208626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177951	chromatin interactions
ENSG00000177963	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12741973	chr1:10638604-10638605	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs535050881	chr1:10638700-10638701	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553318998	chr1:10638703-10638704	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79397266	chr1:10638736-10638737	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2128417	chr1:10638741-10638742	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535907058	chr1:10638775-10638776	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557514236	chr1:10638794-10638795	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149656994	chr1:10638813-10638814	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189818166	chr1:10638823-10638824	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564155120	chr1:10638941-10638942	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375345253	chr1:10638948-10638949	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564592224	chr1:10639006-10639007	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs59859007	chr1:10639017-10639018	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113736844	chr1:10639108-10639109	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148493955	chr1:10639109-10639110	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147894750	chr1:10639110-10639111	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375653370	chr1:10639111-10639112	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72641429	chr1:10639112-10639113	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561677520	chr1:10639161-10639162	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550927260	chr1:10639181-10639182	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145450482	chr1:10639278-10639279	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562227588	chr1:10639286-10639287	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570039770	chr1:10639309-10639310	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148833710	chr1:10639498-10639499	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570994976	chr1:10639549-10639550	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186361358	chr1:10639560-10639561	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192164079	chr1:10639571-10639572	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142684680	chr1:10639579-10639580	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369381532	chr1:10639595-10639596	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147654343	chr1:10639605-10639606	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs61776261	chr1:10639650-10639651	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557426553	chr1:10639652-10639653	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs61776262	chr1:10639667-10639668	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs367596029	chr1:10639698-10639699	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34852690	chr1:10639705-10639706	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113850915	chr1:10639711-10639712	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557924878	chr1:10639757-10639758	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572956420	chr1:10639758-10639759	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568305408	chr1:10639777-10639778	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540491934	chr1:10639797-10639798	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529276835	chr1:10639890-10639891	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561850372	chr1:10639903-10639904	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573631993	chr1:10639917-10639918	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188499523	chr1:10639921-10639922	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs145973155	chr1:10639955-10639956	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532852674	chr1:10639956-10639957	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs3102137	chr1:10639983-10639984	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138362067	chr1:10639987-10639988	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564658891	chr1:10640005-10640006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192712270	chr1:10640037-10640038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	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
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:10607600-10641400	Weak transcription	Lung	lung
7	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:10627800-10641000	Weak transcription	Fetal Stomach	stomach
10	chr1:10627800-10643000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:10628000-10640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:10628000-10650200	Weak transcription	Fetal Lung	lung
13	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:10628800-10651200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:10629600-10639000	Weak transcription	Right Ventricle	heart
16	chr1:10629800-10643600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:10630000-10638800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:10635200-10639000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:10635600-10638800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:10635600-10639600	Weak transcription	Placenta	Placenta
24	chr1:10635800-10650800	Weak transcription	HSMMtube	muscle
25	chr1:10636000-10639000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:10636000-10639000	Weak transcription	Osteobl	bone
27	chr1:10636000-10650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:10636200-10655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:10636400-10639000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:10636400-10656200	Weak transcription	NHEK	skin
32	chr1:10636600-10639200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
34	chr1:10636800-10639000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:10636800-10639400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:10637000-10641600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:10637400-10652200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:10637800-10638800	Enhancers	HepG2	liver
40	chr1:10637800-10639200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:10637800-10639200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:10638000-10639000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:10638000-10639000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:10638000-10639000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:10638000-10639000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr1:10638000-10639000	ZNF genes & repeats	HSMM	muscle
47	chr1:10638000-10639200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:10638000-10639400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:10638000-10639600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:10638000-10640000	Enhancers	HUES48 Cell Line	embryonic stem cell

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