Variant report

Variant	nsv548197
Chromosome Location	chr1:174731596-174741017
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174738784..174740555-chr1:174951842..174953064,10	MCF-7	breast:
2	chr1:174738363..174739795-chr1:174951924..174953020,9	K562	blood:
3	chr1:174740970..174743035-chr1:174745224..174747898,3	K562	blood:
4	chr1:174739087..174740946-chr1:174743005..174745287,2	K562	blood:
5	chr1:174740122..174741759-chr1:174944218..174946654,2	MCF-7	breast:
6	chr1:174566765..174568988-chr1:174739021..174740535,2	K562	blood:
7	chr1:174729839..174732288-chr1:174778725..174780565,2	K562	blood:
8	chr1:174738823..174739778-chr1:174998610..174999515,2	K562	blood:
9	chr1:174735208..174740631-chr1:174966337..174969324,7	MCF-7	breast:
10	chr1:174737719..174739960-chr1:175175568..175177082,2	K562	blood:
11	chr1:174738784..174739768-chr1:174967347..174968305,5	K562	blood:
12	chr1:174738634..174740164-chr1:175067816..175070617,2	K562	blood:
13	chr1:174739153..174739796-chr1:174967269..174968128,2	MCF-7	breast:
14	chr1:174731445..174732972-chr1:174968498..174970769,2	K562	blood:
15	chr1:174738094..174740813-chr1:174741842..174744750,2	K562	blood:
16	chr1:174738859..174740087-chr1:175094536..175095080,4	K562	blood:
17	chr1:174737035..174739319-chr1:174960271..174963005,2	K562	blood:
18	chr1:174733969..174735629-chr1:174967273..174968966,2	MCF-7	breast:
19	chr1:174736386..174740944-chr1:174964309..174969947,11	K562	blood:
20	chr1:174737751..174739700-chr1:174991951..174993658,2	MCF-7	breast:
21	chr1:174738942..174742917-chr1:174963137..174966746,3	MCF-7	breast:
22	chr1:174737447..174741477-chr1:174966880..174970168,5	MCF-7	breast:
23	chr1:174735485..174737469-chr1:174955783..174958399,2	K562	blood:
24	chr1:174735393..174743353-chr1:174964672..174971853,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000252552	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000120333	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1754351	chr1:174731596-174731597	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144348471	chr1:174731624-174731625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183238707	chr1:174731639-174731640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12122515	chr1:174731659-174731660	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554378259	chr1:174731677-174731678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535756003	chr1:174731678-174731679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571486301	chr1:174731714-174731715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530446822	chr1:174731721-174731722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574571151	chr1:174731753-174731754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537196422	chr1:174731760-174731761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190097891	chr1:174731833-174731834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550505313	chr1:174731892-174731893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377446768	chr1:174731895-174731896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368941895	chr1:174731944-174731945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71563260	chr1:174731945-174731946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78583433	chr1:174731947-174731948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61828068	chr1:174731998-174731999	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs150767156	chr1:174732015-174732016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560019204	chr1:174732017-174732018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536394334	chr1:174732057-174732058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573489618	chr1:174732085-174732086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139161617	chr1:174732199-174732200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7536411	chr1:174732204-174732205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182742557	chr1:174732218-174732219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12751240	chr1:174732233-174732234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1970756	chr1:174732304-174732305	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549910555	chr1:174732327-174732328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563090245	chr1:174732381-174732382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532154904	chr1:174732386-174732387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186693252	chr1:174732388-174732389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4359076	chr1:174732451-174732452	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs546747314	chr1:174732473-174732474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528398132	chr1:174732482-174732483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76188677	chr1:174732507-174732508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547979090	chr1:174732508-174732509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200498837	chr1:174732584-174732585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558187554	chr1:174732650-174732651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537108654	chr1:174732656-174732657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs578161238	chr1:174732661-174732662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557433834	chr1:174732668-174732669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192448325	chr1:174732721-174732722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539839397	chr1:174732722-174732723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543460311	chr1:174732751-174732752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553117611	chr1:174732783-174732784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12756023	chr1:174732826-174732827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12126337	chr1:174732830-174732831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372433254	chr1:174732832-174732833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377024818	chr1:174732833-174732834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369687520	chr1:174732837-174732838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372437014	chr1:174732848-174732849	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Intellectual disability	22102821	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174706200-174734000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:174711800-174745600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174712400-174735000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:174720200-174733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174720200-174739000	Weak transcription	GM12878-XiMat	blood
6	chr1:174723200-174739000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174729400-174733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:174730400-174733600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:174730400-174735800	Weak transcription	Gastric	stomach
10	chr1:174731400-174734200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:174733200-174733400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:174733600-174734200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:174733800-174735200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:174734200-174737400	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:174735000-174736400	Enhancers	Fetal Intestine Small	intestine
16	chr1:174735000-174736600	Enhancers	Fetal Intestine Large	intestine
17	chr1:174735200-174735600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:174735200-174736400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:174735200-174736400	Enhancers	K562	blood
20	chr1:174735600-174735800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:174735800-174736400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:174735800-174736400	Enhancers	Gastric	stomach
23	chr1:174735800-174736600	Enhancers	Stomach Mucosa	stomach
24	chr1:174735800-174737000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:174736000-174737800	Enhancers	Liver	Liver
26	chr1:174736400-174737400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:174736400-174737400	Weak transcription	Fetal Intestine Small	intestine
28	chr1:174736400-174739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:174736600-174737000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:174736600-174737000	Weak transcription	Stomach Mucosa	stomach
31	chr1:174737000-174737600	Enhancers	Fetal Intestine Large	intestine
32	chr1:174737000-174737800	Enhancers	Stomach Mucosa	stomach
33	chr1:174737000-174739800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:174737400-174737600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:174737400-174737800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr1:174737400-174737800	Enhancers	Fetal Muscle Leg	muscle
37	chr1:174737400-174738000	Enhancers	Dnd41	blood
38	chr1:174737400-174738400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:174737400-174738800	Enhancers	Fetal Thymus	thymus
40	chr1:174737600-174738000	Enhancers	Fetal Stomach	stomach
41	chr1:174737600-174741800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:174737600-174744200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:174737800-174738800	Weak transcription	Liver	Liver
44	chr1:174737800-174741800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:174738800-174744400	Enhancers	Liver	Liver
46	chr1:174739000-174739200	Enhancers	GM12878-XiMat	blood
47	chr1:174739400-174739800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:174739400-174740200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:174739600-174740000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:174739600-174740400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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