Variant report

Variant	nsv549149
Chromosome Location	chr1:212997385-213009657
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:2)
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	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
2	chr1:212995878..212997398-chr3:73160015..73162089,7	MCF-7	breast:
3	chr1:212997378..212998898-chr17:41399483..41402356,3	K562	blood:
4	chr1:212995878..212997398-chr3:73159960..73162072,6	K562	blood:
5	chr1:212996878..212997398-chr11:62608628..62609644,4	HCT-116	colon:
6	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
7	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
8	chr1:212995878..212997398-chr17:41463374..41466194,3	K562	blood:
9	chr1:212996878..212997398-chr3:73159633..73160628,4	NB4	blood:
10	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
11	chr1:212995898..212997398-chr11:62607627..62609133,2	K562	blood:
12	chr1:212995898..212997398-chr11:62607619..62609127,2	K562	blood:
13	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
14	chr1:212995878..212997398-chr3:73160094..73162072,3	K562	blood:
15	chr1:212995878..212997398-chr17:41380306..41382306,2	K562	blood:
16	chr1:212964912..212966461-chr1:212995791..212998620,2	K562	blood:
17	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
18	chr1:212782226..212783823-chr1:212998854..213001770,2	K562	blood:
19	chr1:212997378..212997898-chr11:5382283..5382803,2	HCT-116	colon:
20	chr1:212995878..212997398-chr17:41380725..41383268,2	MCF-7	breast:
21	chr1:212997378..212997898-chr3:73160072..73160592,2	Hela-S3	cervix:
22	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
23	chr1:212996878..212997398-chr3:73159952..73160630,6	HCT-116	colon:
24	chr1:212984776..212986773-chr1:212997927..213000551,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN3-1	chr1:212997369-212997847	NONHSAT009402
2	lnc-TATDN3-2	chr1:212998542-212998832	NONHSAT009403

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000203705	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000117697	chromatin interactions

Extended variants
information (count: 498 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10864002	chr1:212997385-212997386	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556424750	chr1:212997447-212997448	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs574808708	chr1:212997457-212997458	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs138108541	chr1:212997485-212997486	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs181816185	chr1:212997537-212997538	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs377396711	chr1:212997538-212997539	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs572407366	chr1:212997550-212997551	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs77799719	chr1:212997559-212997560	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs114742697	chr1:212997560-212997561	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs370489867	chr1:212997562-212997563	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs531512265	chr1:212997599-212997600	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs549741775	chr1:212997602-212997603	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs561926890	chr1:212997606-212997607	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs186154691	chr1:212997629-212997630	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs114480087	chr1:212997630-212997631	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs113419652	chr1:212997635-212997636	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs528362926	chr1:212997649-212997650	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs539110610	chr1:212997689-212997690	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs551437796	chr1:212997722-212997723	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs143679986	chr1:212997744-212997745	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs140645363	chr1:212997785-212997786	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs538400829	chr1:212997790-212997791	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs147160915	chr1:212997839-212997840	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs574745660	chr1:212997858-212997859	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs374038775	chr1:212997872-212997873	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377130456	chr1:212997873-212997874	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs535756481	chr1:212997876-212997877	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs367550433	chr1:212997887-212997888	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs376740945	chr1:212997891-212997892	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs148647184	chr1:212997952-212997953	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376405567	chr1:212997960-212997961	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572399588	chr1:212997969-212997970	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557811346	chr1:212997975-212997976	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369363366	chr1:212998010-212998011	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12127940	chr1:212998014-212998015	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553396574	chr1:212998034-212998035	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77715668	chr1:212998037-212998038	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191101363	chr1:212998052-212998053	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576474620	chr1:212998060-212998061	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs180727113	chr1:212998104-212998105	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530397350	chr1:212998118-212998119	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12131272	chr1:212998184-212998185	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12131273	chr1:212998186-212998187	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186553966	chr1:212998197-212998198	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550276389	chr1:212998210-212998211	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529159028	chr1:212998211-212998212	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191158856	chr1:212998233-212998234	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559713077	chr1:212998239-212998240	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183170916	chr1:212998263-212998264	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532926079	chr1:212998264-212998265	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	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
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
2	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:212988400-212998800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:212988600-212998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212990800-212998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:212991000-212998800	Weak transcription	Stomach Mucosa	stomach
10	chr1:212994000-212999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:212996200-212997400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:212996400-212998600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:212997000-212998600	Weak transcription	HepG2	liver
14	chr1:212997200-212997400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:212997200-213000200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr1:212997400-212997800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr1:212997400-212997800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:212997400-212997800	ZNF genes & repeats	Aorta	Aorta
19	chr1:212997400-212999600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:212998600-212998800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:212998600-212999200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:212998600-212999400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:212998600-212999600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:212998600-212999600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:212998600-212999800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:212998600-212999800	ZNF genes & repeats	HepG2	liver
27	chr1:212998600-212999800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr1:212998800-212999800	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr1:212998800-212999800	ZNF genes & repeats	Stomach Mucosa	stomach
30	chr1:212999000-212999400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr1:212999000-212999800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:212999200-212999600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:212999400-212999600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:212999800-213000400	Weak transcription	HepG2	liver
36	chr1:212999800-213000600	Weak transcription	Stomach Mucosa	stomach
37	chr1:212999800-213003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
39	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:213000200-213000400	Weak transcription	Fetal Intestine Small	intestine
41	chr1:213000400-213000800	Enhancers	HepG2	liver
42	chr1:213000400-213002800	Enhancers	Fetal Intestine Small	intestine
43	chr1:213000600-213001000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:213000600-213001800	Enhancers	Stomach Mucosa	stomach
45	chr1:213000600-213002200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:213000600-213002600	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:213000600-213002800	Enhancers	Fetal Intestine Large	intestine
48	chr1:213000800-213001000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:213000800-213002400	Flanking Active TSS	HepG2	liver
50	chr1:213001000-213001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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