Variant report

Variant	nsv963937
Chromosome Location	chr2:172925766-172929014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:172927551-172927788	K562	blood:	n/a	n/a
2	BHLHE40	chr2:172927314-172927514	K562	blood:	n/a	n/a
3	CTCF	chr2:172927595-172927759	K562	blood:	n/a	n/a
4	CTCF	chr2:172927620-172927770	GM12865	blood:	n/a	n/a
5	CUX1	chr2:172927474-172927712	K562	blood:	n/a	n/a
6	EP300	chr2:172927282-172927292	K562	blood:	n/a	n/a
7	EP300	chr2:172927537-172927703	K562	blood:	n/a	n/a
8	JUND	chr2:172927185-172927660	K562	blood:	n/a	n/a
9	MAFK	chr2:172927344-172927693	K562	blood:	n/a	n/a
10	MAZ	chr2:172927266-172927648	K562	blood:	n/a	n/a
11	POLR2A	chr2:172928811-172928889	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:172928361-172928372	Gliobla	brain:	n/a	n/a
13	POLR2A	chr2:172928321-172928329	Gliobla	brain:	n/a	n/a
14	POLR2A	chr2:172925985-172925992	MCF10A-Er-Src	breast:	n/a	n/a
15	RCOR1	chr2:172927317-172927805	K562	blood:	n/a	n/a
16	UBTF	chr2:172927366-172927622	K562	blood:	n/a	n/a
17	UBTF	chr2:172927374-172927467	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
2	chr2:172923489..172925905-chr2:172947615..172951148,4	MCF-7	breast:
3	chr2:172928306..172931524-chr2:172948301..172950748,4	MCF-7	breast:
4	chr2:172863381..172865132-chr2:172924958..172927915,2	MCF-7	breast:
5	chr2:172916439..172918437-chr2:172924109..172926008,2	K562	blood:
6	chr2:172920303..172928510-chr2:172947424..172952310,9	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAT1-1	chr2:172928439-172929142	NONHSAT075484
2	lnc-HAT1-1	chr2:172926226-172926722	NONHSAT075485
3	lnc-HAT1-1	chr2:172928439-172928478	NONHSAT075486
4	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075484
5	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075486

No data

Variant related genes	Relation type
METAP1D	TF binding region
ENSG00000115840	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000172878	chromatin interactions
TSPAN9	miRNA target sites

Extended variants
information (count: 110 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530644794	chr2:172925843-172925844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs548787917	chr2:172925853-172925854	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567302739	chr2:172925878-172925879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528066795	chr2:172925893-172925894	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546579015	chr2:172925901-172925902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557149574	chr2:172925939-172925940	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs187539519	chr2:172925961-172925962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575907350	chr2:172925986-172925987	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs557212152	chr2:172926053-172926054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190926560	chr2:172926061-172926062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs536783353	chr2:172926064-172926065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs142080364	chr2:172926068-172926069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374934621	chr2:172926116-172926117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs575824281	chr2:172926135-172926136	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs13384251	chr2:172926198-172926199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs62183852	chr2:172926211-172926212	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10497377	chr2:172926226-172926227	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544469271	chr2:172926300-172926301	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs375122171	chr2:172926325-172926326	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs368069459	chr2:172926336-172926337	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs199719577	chr2:172926349-172926350	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs149714087	chr2:172926350-172926351	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs530209960	chr2:172926373-172926374	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs182090109	chr2:172926396-172926397	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs150424911	chr2:172926438-172926439	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs138195183	chr2:172926549-172926550	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs186726694	chr2:172926620-172926621	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs571231410	chr2:172926639-172926640	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs788161	chr2:172926671-172926672	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6737876	chr2:172926676-172926677	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11324116	chr2:172926699-172926700	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs569078597	chr2:172926700-172926701	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs536047627	chr2:172926705-172926706	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs397986682	chr2:172926706-172926707	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs116561704	chr2:172926710-172926711	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs149514383	chr2:172926807-172926808	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs534000311	chr2:172926808-172926809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558544290	chr2:172926823-172926824	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs576809941	chr2:172926837-172926838	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs544530908	chr2:172926884-172926885	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs556570161	chr2:172926914-172926915	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs4972544	chr2:172926956-172926957	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs575037555	chr2:172927008-172927009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs191386984	chr2:172927078-172927079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs200312408	chr2:172927130-172927131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs377536255	chr2:172927181-172927182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs560708648	chr2:172927287-172927288	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs572992470	chr2:172927293-172927294	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs540317666	chr2:172927323-172927324	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576838389	chr2:172927330-172927331	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:172911200-172947200	Weak transcription	HSMM	muscle
3	chr2:172914000-172937000	Weak transcription	Pancreas	Pancrea
4	chr2:172917200-172927200	Weak transcription	Left Ventricle	heart
5	chr2:172917200-172927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:172917400-172927000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:172917400-172934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172917800-172925800	Weak transcription	Fetal Lung	lung
9	chr2:172917800-172927800	Weak transcription	Ovary	ovary
10	chr2:172917800-172932000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:172917800-172944800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:172918000-172930400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:172918000-172932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:172918600-172927200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:172918600-172935600	Weak transcription	Fetal Kidney	kidney
16	chr2:172918600-172935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:172918800-172926200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172921200-172927000	Weak transcription	K562	blood
19	chr2:172921800-172937200	Weak transcription	HepG2	liver
20	chr2:172923600-172939800	Weak transcription	Psoas Muscle	Psoas
21	chr2:172924200-172935800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:172924400-172931400	Weak transcription	Primary B cells from cord blood	blood
23	chr2:172925400-172925800	Enhancers	Brain Germinal Matrix	brain
24	chr2:172925400-172927000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:172925600-172926200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172925600-172926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:172925600-172931000	Weak transcription	HSMMtube	muscle
28	chr2:172925600-172932400	Weak transcription	Dnd41	blood
29	chr2:172925800-172926000	Enhancers	Fetal Lung	lung
30	chr2:172925800-172926200	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr2:172925800-172927200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:172925800-172930200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:172925800-172937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:172925800-172937400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:172925800-172942400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:172926000-172928200	Weak transcription	Spleen	Spleen
37	chr2:172926000-172931000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:172926000-172932000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:172926200-172926400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:172926200-172926400	Enhancers	Brain Germinal Matrix	brain
41	chr2:172926200-172928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:172926200-172933200	Weak transcription	Aorta	Aorta
43	chr2:172926200-172933400	Weak transcription	Right Ventricle	heart
44	chr2:172926400-172926800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:172926400-172929800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:172926400-172935200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:172926600-172933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:172926800-172929200	Enhancers	Brain Germinal Matrix	brain
49	chr2:172926800-172929800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:172927000-172927200	Weak transcription	Fetal Stomach	stomach

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