Variant report

Variant	rs560708648
Chromosome Location	chr2:172927287-172927288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:172927266-172927648	K562	blood:	n/a	n/a
2	EP300	chr2:172927282-172927292	K562	blood:	n/a	n/a
3	JUND	chr2:172927185-172927660	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172863381..172865132-chr2:172924958..172927915,2	MCF-7	breast:
2	chr2:172920303..172928510-chr2:172947424..172952310,9	K562	blood:

Variant related genes	Relation type
METAP1D	TF binding region
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv963937	chr2:172925766-172929014	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

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	chr2:172917400-172934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:172917800-172927800	Weak transcription	Ovary	ovary
6	chr2:172917800-172932000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:172917800-172944800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:172918000-172930400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172918000-172932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:172918600-172935600	Weak transcription	Fetal Kidney	kidney
11	chr2:172918600-172935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:172921800-172937200	Weak transcription	HepG2	liver
13	chr2:172923600-172939800	Weak transcription	Psoas Muscle	Psoas
14	chr2:172924200-172935800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:172924400-172931400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:172925600-172931000	Weak transcription	HSMMtube	muscle
17	chr2:172925600-172932400	Weak transcription	Dnd41	blood
18	chr2:172925800-172930200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:172925800-172937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:172925800-172937400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:172925800-172942400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:172926000-172928200	Weak transcription	Spleen	Spleen
23	chr2:172926000-172931000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:172926000-172932000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:172926200-172928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172926200-172933200	Weak transcription	Aorta	Aorta
27	chr2:172926200-172933400	Weak transcription	Right Ventricle	heart
28	chr2:172926400-172929800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:172926400-172935200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:172926600-172933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:172926800-172929200	Enhancers	Brain Germinal Matrix	brain
32	chr2:172926800-172929800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:172927000-172927600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:172927000-172928600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:172927000-172933800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:172927200-172927400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:172927200-172927600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:172927200-172927600	Enhancers	Fetal Stomach	stomach
39	chr2:172927200-172927800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:172927200-172928400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:172927200-172928400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:172927200-172928600	Strong transcription	Left Ventricle	heart
43	chr2:172927200-172928600	Genic enhancers	K562	blood
44	chr2:172927200-172931400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:172927200-172931600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:172927200-172941600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links