Variant report

Variant	nsv467306
Chromosome Location	chr1:195834735-195872295
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
2	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
3	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
4	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
5	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
6	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
7	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
8	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
9	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
10	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
11	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
12	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
13	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
14	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
15	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
16	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
17	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
18	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
19	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
20	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
21	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
22	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
23	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
24	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
25	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
26	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
27	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
28	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
29	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
30	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
31	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
32	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
33	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
34	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
35	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:

No data

Extended variants
information (count: 670 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4559482	chr1:195834735-195834736	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530954320	chr1:195834777-195834778	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188353377	chr1:195834851-195834852	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386638212	chr1:195834874-195834875	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4587547	chr1:195834885-195834886	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148006244	chr1:195834935-195834936	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536505246	chr1:195834936-195834937	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562383602	chr1:195834959-195834960	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4587548	chr1:195834979-195834980	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4440839	chr1:195834993-195834994	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569250949	chr1:195835003-195835004	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537663599	chr1:195835015-195835016	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533511489	chr1:195835077-195835078	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191540662	chr1:195835124-195835125	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7534788	chr1:195835131-195835132	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182477534	chr1:195835199-195835200	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs141652122	chr1:195835280-195835281	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34560049	chr1:195835284-195835285	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186816922	chr1:195835460-195835461	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535058805	chr1:195835486-195835487	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370463869	chr1:195835522-195835523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376420661	chr1:195835523-195835524	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs199546669	chr1:195835525-195835526	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371803587	chr1:195835526-195835527	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371638811	chr1:195835527-195835528	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374920890	chr1:195835529-195835530	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575238375	chr1:195835564-195835565	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539553989	chr1:195835579-195835580	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558361839	chr1:195835581-195835582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530446216	chr1:195835628-195835629	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540839032	chr1:195835632-195835633	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191243336	chr1:195835633-195835634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4454529	chr1:195835634-195835635	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544273101	chr1:195835636-195835637	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562938284	chr1:195835642-195835643	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4356030	chr1:195835666-195835667	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560226935	chr1:195835672-195835673	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528229228	chr1:195835758-195835759	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546390466	chr1:195835771-195835772	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568009343	chr1:195835778-195835779	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535781342	chr1:195835785-195835786	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150512593	chr1:195835791-195835792	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541713793	chr1:195835867-195835868	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568863016	chr1:195835900-195835901	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539077880	chr1:195835937-195835938	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185718998	chr1:195835940-195835941	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12139103	chr1:195835990-195835991	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534390534	chr1:195836010-195836011	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556038877	chr1:195836020-195836021	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574237794	chr1:195836024-195836025	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:195833600-195836600	Active TSS	K562	blood
3	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
4	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
9	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:195836600-195837000	Enhancers	K562	blood
12	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:195849000-195849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:195849000-195849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:195855400-195855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:195855400-195855800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:195855400-195855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:195855400-195856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:195855400-195856000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:195855800-195858200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:195858200-195858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:195862800-195864200	Enhancers	K562	blood
25	chr1:195863000-195863200	Enhancers	Aorta	Aorta
26	chr1:195863200-195864000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:195863200-195864200	Enhancers	Fetal Heart	heart
28	chr1:195863200-195864200	Enhancers	HMEC	breast
29	chr1:195863200-195864400	Enhancers	Left Ventricle	heart
30	chr1:195863400-195864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:195863400-195864400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:195863600-195864000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:195863600-195864000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:195863600-195864200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:195863600-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:195863800-195864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:195863800-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:195864200-195866400	Weak transcription	K562	blood
39	chr1:195864200-195868800	Weak transcription	HMEC	breast
40	chr1:195864400-195868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:195864400-195869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:195866400-195866600	Enhancers	K562	blood
43	chr1:195866600-195867000	Weak transcription	K562	blood
44	chr1:195866800-195869400	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:195867000-195867600	Enhancers	K562	blood
46	chr1:195867000-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:195867200-195867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:195867200-195867800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:195867400-195868200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:195867400-195868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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