Variant report

Variant	nsv3609
Chromosome Location	chr1:175046412-175094406
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:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
2	chr1:175061981..175063618-chr1:175064520..175066767,2	MCF-7	breast:
3	chr1:175047862..175049387-chr1:175064972..175066550,2	K562	blood:
4	chr1:175050894..175052513-chr1:175093322..175096065,2	MCF-7	breast:
5	chr1:175048686..175050495-chr1:175051528..175053707,2	K562	blood:
6	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:
7	chr1:175061981..175063618-chr1:175064520..175066767,2	MCF-7	breast:
8	chr1:175048686..175050495-chr1:175051528..175053707,2	K562	blood:
9	chr1:175047862..175049387-chr1:175064972..175066550,2	K562	blood:
10	chr1:174967200..174969081-chr1:175083756..175086035,2	K562	blood:
11	chr1:174998838..174999575-chr1:175094140..175095082,5	MCF-7	breast:
12	chr1:175048446..175050734-chr1:175051800..175053670,2	MCF-7	breast:
13	chr1:175091685..175094091-chr1:175094460..175097259,2	K562	blood:
14	chr1:175077823..175079670-chr1:175081548..175083475,2	K562	blood:
15	chr1:175077823..175080085-chr1:175081548..175084338,3	K562	blood:
16	chr1:175050894..175052513-chr1:175093322..175096065,2	MCF-7	breast:
17	chr1:175058271..175062583-chr1:175062770..175067990,6	K562	blood:
18	chr1:175080162..175082103-chr1:175085458..175088107,2	K562	blood:
19	chr1:175047887..175050312-chr1:175064283..175066550,2	K562	blood:
20	chr1:175058365..175061494-chr1:175062662..175065562,3	K562	blood:
21	chr1:175077823..175079670-chr1:175081548..175083475,2	K562	blood:
22	chr1:175045192..175046870-chr15:101253779..101256143,2	MCF-7	breast:
23	chr1:175063814..175066744-chr1:175083988..175085835,3	K562	blood:
24	chr1:175037717..175040130-chr1:175044107..175046974,3	K562	blood:
25	chr1:175065484..175067807-chr1:175139999..175142698,2	K562	blood:
26	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
27	chr1:174998638..174999503-chr1:175094151..175094986,4	K562	blood:
28	chr1:174738634..174740164-chr1:175067816..175070617,2	K562	blood:
29	chr1:175047887..175050312-chr1:175064283..175066550,2	K562	blood:
30	chr1:174768698..174770635-chr1:175067635..175070308,2	K562	blood:
31	chr1:175048446..175050734-chr1:175051800..175053670,2	MCF-7	breast:
32	chr1:175037331..175039889-chr1:175047402..175050144,2	K562	blood:
33	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:
34	chr1:175080162..175082103-chr1:175085458..175088107,2	K562	blood:
35	chr1:174995889..174998745-chr1:175066579..175068389,2	K562	blood:
36	chr1:175058365..175061494-chr1:175062662..175065562,3	K562	blood:
37	chr1:175077823..175080085-chr1:175081548..175084338,3	K562	blood:
38	chr1:175041206..175043201-chr1:175056003..175057829,2	K562	blood:
39	chr1:175094084..175096187-chr1:175106448..175108286,2	K562	blood:
40	chr1:175058271..175062583-chr1:175062770..175067990,6	K562	blood:
41	chr1:175063814..175066744-chr1:175083988..175085835,3	K562	blood:
42	chr1:175018453..175021258-chr1:175048643..175051325,2	MCF-7	breast:
43	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACYBP-2	chr1:175079003-175081354	ucscGeneNc_uc001gla_1

No data

Variant related genes	Relation type
ENSG00000116161	chromatin interactions
ENSG00000152061	chromatin interactions

Extended variants
information (count: 1792 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112462550	chr1:175046454-175046455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201135138	chr1:175046463-175046464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74128565	chr1:175046477-175046478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2072033	chr1:175046488-175046489	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs187821849	chr1:175046491-175046492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200300404	chr1:175046517-175046518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372100456	chr1:175046539-175046540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143192203	chr1:175046557-175046558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147514080	chr1:175046576-175046577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571813030	chr1:175046585-175046586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144805896	chr1:175046586-175046587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200652913	chr1:175046612-175046613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560642663	chr1:175046619-175046620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142139120	chr1:175046627-175046628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529677727	chr1:175046635-175046636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199897051	chr1:175046652-175046653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139469537	chr1:175046659-175046660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372288697	chr1:175046664-175046665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201267863	chr1:175046683-175046684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200860132	chr1:175046687-175046688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147634808	chr1:175046698-175046699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140159046	chr1:175046715-175046716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376812431	chr1:175046719-175046720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144398235	chr1:175046727-175046728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200629974	chr1:175046737-175046738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190734882	chr1:175046756-175046757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202097140	chr1:175046759-175046760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs41266076	chr1:175046762-175046763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544463439	chr1:175046767-175046768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537478026	chr1:175046773-175046774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145663125	chr1:175046779-175046780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148077989	chr1:175046787-175046788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2072032	chr1:175046789-175046790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs111353589	chr1:175046797-175046798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539702818	chr1:175046816-175046817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs41266078	chr1:175046826-175046827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs34171717	chr1:175046827-175046828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs41266080	chr1:175046835-175046836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149261705	chr1:175046842-175046843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182920259	chr1:175046852-175046853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369231123	chr1:175046858-175046859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201940821	chr1:175046886-175046887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145009218	chr1:175046920-175046921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543422730	chr1:175046942-175046943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111311702	chr1:175046963-175046964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563098478	chr1:175046984-175046985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375706205	chr1:175046985-175046986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374933244	chr1:175046996-175046997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532438046	chr1:175047002-175047003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373213499	chr1:175047024-175047025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175039800-175046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:175042400-175050600	Weak transcription	Spleen	Spleen
3	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:175044200-175049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:175044800-175047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175045400-175049200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:175045600-175058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:175046600-175046800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:175046600-175047800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:175047000-175065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:175047800-175048200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:175049200-175049400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:175051000-175051800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:175051800-175056400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:175056000-175057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175056400-175056800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:175056400-175059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:175056800-175058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:175057400-175057600	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:175057400-175057600	Enhancers	Right Atrium	heart
22	chr1:175057400-175058000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:175057600-175058800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:175057600-175059000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:175057600-175059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:175057600-175059000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:175057600-175063200	Weak transcription	Right Atrium	heart
28	chr1:175057800-175058600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:175057800-175058600	Enhancers	Fetal Kidney	kidney
30	chr1:175058000-175058400	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:175058200-175059000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:175058400-175058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:175058400-175058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:175058400-175058600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:175058600-175058800	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:175058600-175059600	Weak transcription	Fetal Kidney	kidney
37	chr1:175058600-175059600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:175058600-175062000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:175058800-175059200	Enhancers	Fetal Stomach	stomach
40	chr1:175059000-175063200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:175059000-175063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:175059200-175059600	Weak transcription	Fetal Stomach	stomach
43	chr1:175059600-175060400	Enhancers	Fetal Kidney	kidney
44	chr1:175059600-175060600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:175059600-175060600	Enhancers	Fetal Stomach	stomach
46	chr1:175059600-175060600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:175059800-175060600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:175062000-175062800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:175062200-175062400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:175062400-175071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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