Variant report

Variant	nsv947162
Chromosome Location	chr1:224690408-224695941
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224693369..224695979-chr1:224697952..224700518,2	K562	blood:
2	chr1:224690598..224692730-chr1:224711571..224713777,2	K562	blood:
3	chr1:224683423..224687942-chr1:224688283..224691740,8	K562	blood:
4	chr1:224348304..224349923-chr1:224689007..224690690,2	K562	blood:
5	chr1:224622250..224624534-chr1:224688167..224691066,2	MCF-7	breast:
6	chr1:224621492..224623034-chr1:224689907..224692360,2	K562	blood:
7	chr1:224690531..224692939-chr1:225090121..225091739,2	K562	blood:
8	chr1:224691785..224694347-chr1:224730070..224732197,2	K562	blood:
9	chr1:224643383..224644923-chr1:224691038..224692842,2	MCF-7	breast:
10	chr1:224313817..224316131-chr1:224691933..224694076,2	MCF-7	breast:
11	chr1:224688210..224692730-chr1:224708810..224713777,4	K562	blood:
12	chr1:224679447..224681226-chr1:224689931..224692404,2	MCF-7	breast:
13	chr1:224619049..224621827-chr1:224690303..224691906,2	MCF-7	breast:
14	chr1:224624808..224626574-chr1:224690723..224692820,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNIH3-2	chr1:224695733-224695757	NONHSAT009809

No data

Variant related genes	Relation type
ENSG00000162923	chromatin interactions
ENSG00000143786	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186121404	chr1:224690440-224690441	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558674687	chr1:224690537-224690538	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571234436	chr1:224690567-224690568	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538528516	chr1:224690587-224690588	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553614018	chr1:224690708-224690709	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571931031	chr1:224690754-224690755	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145082556	chr1:224690776-224690777	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554658736	chr1:224690803-224690804	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6665956	chr1:224690834-224690835	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532577605	chr1:224690848-224690849	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374283286	chr1:224690881-224690882	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112242170	chr1:224690884-224690885	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564712158	chr1:224690885-224690886	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377065486	chr1:224690971-224690972	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79448051	chr1:224691033-224691034	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541770175	chr1:224691190-224691191	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191024714	chr1:224691193-224691194	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530329751	chr1:224691304-224691305	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548490173	chr1:224691307-224691308	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563849138	chr1:224691363-224691364	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530884642	chr1:224691365-224691366	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566265323	chr1:224691400-224691401	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372806507	chr1:224691414-224691415	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534982964	chr1:224691417-224691418	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147591137	chr1:224691420-224691421	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545280952	chr1:224691426-224691427	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116639100	chr1:224691471-224691472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565598538	chr1:224691476-224691477	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564520963	chr1:224691504-224691505	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113245132	chr1:224691525-224691526	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536493748	chr1:224691546-224691547	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59066189	chr1:224691734-224691735	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562134035	chr1:224691758-224691759	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76210471	chr1:224691789-224691790	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182060771	chr1:224691832-224691833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117588368	chr1:224691834-224691835	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61825794	chr1:224691848-224691849	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144222647	chr1:224691883-224691884	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560132223	chr1:224691903-224691904	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575026571	chr1:224691906-224691907	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372942113	chr1:224691917-224691918	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542435078	chr1:224691919-224691920	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185519892	chr1:224691946-224691947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531097238	chr1:224691998-224691999	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376539108	chr1:224692058-224692059	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564193873	chr1:224692061-224692062	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147778382	chr1:224692126-224692127	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546580323	chr1:224692135-224692136	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs116322518	chr1:224692194-224692195	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115177091	chr1:224692328-224692329	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:224686600-224691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:224686600-224691000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:224686600-224691200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:224686600-224691200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:224686800-224690600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:224686800-224691000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:224686800-224691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:224686800-224691000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:224687200-224690600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:224687400-224691000	Weak transcription	HSMMtube	muscle
12	chr1:224687800-224692600	Enhancers	Fetal Thymus	thymus
13	chr1:224688600-224694400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:224688800-224690600	Weak transcription	HSMM	muscle
15	chr1:224688800-224690800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:224689000-224690800	Enhancers	Dnd41	blood
17	chr1:224689200-224691200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:224689200-224692000	Enhancers	Thymus	Thymus
19	chr1:224689400-224691000	Enhancers	NHEK	skin
20	chr1:224689400-224691600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:224689400-224691800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:224689400-224692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:224689400-224692000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:224689400-224692200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:224689600-224690600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:224689600-224690600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:224689600-224690800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:224689600-224690800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:224689600-224690800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:224689600-224690800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:224689600-224691000	Enhancers	Brain Hippocampus Middle	brain
32	chr1:224689600-224691000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:224689600-224691200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:224689600-224691600	Enhancers	Left Ventricle	heart
35	chr1:224689600-224691800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:224689600-224692000	Enhancers	Esophagus	oesophagus
37	chr1:224689600-224692000	Enhancers	Fetal Stomach	stomach
38	chr1:224689600-224692400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:224689600-224692400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:224689600-224692400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:224689600-224692400	Enhancers	Right Ventricle	heart
42	chr1:224689600-224692600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:224689600-224692600	Enhancers	Fetal Muscle Leg	muscle
44	chr1:224689600-224692600	Enhancers	Pancreas	Pancrea
45	chr1:224689600-224692600	Enhancers	Right Atrium	heart
46	chr1:224689600-224692600	Enhancers	Stomach Mucosa	stomach
47	chr1:224689600-224693000	Enhancers	Lung	lung
48	chr1:224689600-224693200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:224689600-224694600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:224689600-224694800	Enhancers	HMEC	breast

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