Variant report

Variant	nsv508648
Chromosome Location	chr1:175056387-175121913
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:72)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:174967738..174969633-chr1:175098002..175100021,2	MCF-7	breast:
2	chr1:175101221..175103304-chr1:175107956..175109650,3	K562	blood:
3	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
4	chr1:175080162..175082103-chr1:175085458..175088107,2	K562	blood:
5	chr1:175121100..175121853-chr1:175190564..175191561,4	MCF-7	breast:
6	chr1:175121249..175122160-chr20:46012857..46013384,2	MCF-7	breast:
7	chr1:174995889..174998745-chr1:175066579..175068389,2	K562	blood:
8	chr1:174998638..174999503-chr1:175094151..175094986,4	K562	blood:
9	chr1:175107855..175110703-chr1:175112302..175114533,2	K562	blood:
10	chr1:175115119..175117020-chr1:175119706..175122509,2	K562	blood:
11	chr1:175063814..175066744-chr1:175083988..175085835,3	K562	blood:
12	chr1:175115502..175116290-chr1:175190557..175191448,3	MCF-7	breast:
13	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:
14	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
15	chr1:174992345..174994301-chr1:175097366..175099621,2	MCF-7	breast:
16	chr1:175077823..175080085-chr1:175081548..175084338,3	K562	blood:
17	chr1:174977530..174979970-chr1:175117504..175119186,2	K562	blood:
18	chr1:175050894..175052513-chr1:175093322..175096065,2	MCF-7	breast:
19	chr1:175107855..175110703-chr1:175112302..175114533,2	K562	blood:
20	chr1:174999715..175000287-chr1:175115510..175116172,2	MCF-7	breast:
21	chr1:175091685..175094091-chr1:175094460..175097259,2	K562	blood:
22	chr1:175094084..175096187-chr1:175106448..175108286,2	K562	blood:
23	chr1:175101221..175103304-chr1:175107956..175109650,3	K562	blood:
24	chr1:175047887..175050312-chr1:175064283..175066550,2	K562	blood:
25	chr1:174999884..175001558-chr1:175119055..175120862,2	K562	blood:
26	chr1:175058365..175061494-chr1:175062662..175065562,3	K562	blood:
27	chr1:175119497..175122069-chr1:175128749..175130315,2	K562	blood:
28	chr1:175077823..175079670-chr1:175081548..175083475,2	K562	blood:
29	chr1:175041206..175043201-chr1:175056003..175057829,2	K562	blood:
30	chr1:175107717..175110703-chr1:175112302..175114533,3	K562	blood:
31	chr1:174768698..174770635-chr1:175067635..175070308,2	K562	blood:
32	chr1:175058271..175062583-chr1:175062770..175067990,6	K562	blood:
33	chr1:175077823..175080085-chr1:175081548..175084338,3	K562	blood:
34	chr1:175120985..175121765-chr1:175450538..175451369,3	MCF-7	breast:
35	chr1:174998838..174999575-chr1:175094140..175095082,5	MCF-7	breast:
36	chr1:175094084..175096187-chr1:175106448..175108286,2	K562	blood:
37	chr1:175120904..175121812-chr1:175286147..175287013,2	K562	blood:
38	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:
39	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:
40	chr1:175120893..175122048-chr1:175190726..175191384,3	MCF-7	breast:
41	chr1:175097117..175098670-chr1:176175476..176178075,2	MCF-7	breast:
42	chr1:174738859..174740087-chr1:175094536..175095080,4	K562	blood:
43	chr1:174991644..174994084-chr1:175099649..175102143,2	K562	blood:
44	chr1:175120874..175121520-chr1:175449995..175450848,2	MCF-7	breast:
45	chr1:175065484..175067807-chr1:175139999..175142698,2	K562	blood:
46	chr1:175115501..175116143-chr1:175288535..175289144,2	K562	blood:
47	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:
48	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
49	chr1:175120832..175121579-chr1:175291692..175292526,2	MCF-7	breast:
50	chr1:175077823..175079670-chr1:175081548..175083475,2	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
ENSG00000143207	chromatin interactions
ENSG00000236021	chromatin interactions
ENSG00000120333	chromatin interactions
ENSG00000206659	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000152061	chromatin interactions

Extended variants
information (count: 2475 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2475 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536665226	chr1:175056476-175056477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2213851	chr1:175056516-175056517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs56226643	chr1:175056554-175056555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74897643	chr1:175056557-175056558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565562544	chr1:175056573-175056574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376877088	chr1:175056590-175056591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572707616	chr1:175056607-175056608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538558392	chr1:175056614-175056615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186811146	chr1:175056682-175056683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554827927	chr1:175056713-175056714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191237513	chr1:175056788-175056789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548969324	chr1:175056801-175056802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114782335	chr1:175056869-175056870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147685368	chr1:175056929-175056930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4650697	chr1:175056933-175056934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs9650986	chr1:175056943-175056944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542102193	chr1:175056976-175056977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531489436	chr1:175056986-175056987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533757572	chr1:175056988-175056989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59822966	chr1:175057003-175057004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4651307	chr1:175057018-175057019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142458484	chr1:175057031-175057032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556616377	chr1:175057032-175057033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576541642	chr1:175057052-175057053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370617142	chr1:175057053-175057054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183395208	chr1:175057058-175057059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559314733	chr1:175057076-175057077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545692288	chr1:175057099-175057100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572744060	chr1:175057124-175057125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541623870	chr1:175057155-175057156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561279916	chr1:175057192-175057193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574976540	chr1:175057216-175057217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4651308	chr1:175057248-175057249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143318439	chr1:175057250-175057251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532181977	chr1:175057309-175057310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531231534	chr1:175057321-175057322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61541139	chr1:175057323-175057324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148353596	chr1:175057330-175057331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55808408	chr1:175057331-175057332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6425318	chr1:175057376-175057377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs35616015	chr1:175057395-175057396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140573541	chr1:175057411-175057412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550326239	chr1:175057512-175057513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570137192	chr1:175057531-175057532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539051907	chr1:175057535-175057536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188957894	chr1:175057567-175057568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6425319	chr1:175057573-175057574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs535056850	chr1:175057610-175057611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377018814	chr1:175057645-175057646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372030128	chr1:175057673-175057674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:175045600-175058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:175047000-175065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:175051800-175056400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:175056000-175057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:175056400-175056800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:175056400-175059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:175056800-175058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:175057400-175057600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:175057400-175057600	Enhancers	Right Atrium	heart
12	chr1:175057400-175058000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:175057600-175058800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:175057600-175059000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:175057600-175059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:175057600-175059000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:175057600-175063200	Weak transcription	Right Atrium	heart
18	chr1:175057800-175058600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:175057800-175058600	Enhancers	Fetal Kidney	kidney
20	chr1:175058000-175058400	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:175058200-175059000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:175058400-175058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:175058400-175058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:175058400-175058600	Enhancers	Fetal Muscle Leg	muscle
25	chr1:175058600-175058800	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:175058600-175059600	Weak transcription	Fetal Kidney	kidney
27	chr1:175058600-175059600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:175058600-175062000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:175058800-175059200	Enhancers	Fetal Stomach	stomach
30	chr1:175059000-175063200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:175059000-175063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:175059200-175059600	Weak transcription	Fetal Stomach	stomach
33	chr1:175059600-175060400	Enhancers	Fetal Kidney	kidney
34	chr1:175059600-175060600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:175059600-175060600	Enhancers	Fetal Stomach	stomach
36	chr1:175059600-175060600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:175059800-175060600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:175062000-175062800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:175062200-175062400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:175062400-175071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:175063200-175063400	ZNF genes & repeats	Right Atrium	heart
42	chr1:175063200-175064600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:175063200-175065400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:175063400-175068200	Weak transcription	Right Atrium	heart
45	chr1:175065000-175065800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:175065000-175065800	Enhancers	HepG2	liver
47	chr1:175065200-175065400	Bivalent Enhancer	K562	blood
48	chr1:175065400-175065800	Enhancers	A549	lung
49	chr1:175071400-175071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:175075800-175076200	Active TSS	K562	blood

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