Variant report

Variant	rs45625838
Chromosome Location	chr2:191838659-191838660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191835740..191838678-chr2:191840803..191842753,2	K562	blood:

Variant related genes	Relation type
ENSG00000115415	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191825800-191843400	Strong transcription	Fetal Thymus	thymus
6	chr2:191825800-191844800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:191826000-191844600	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:191826000-191849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:191826200-191845000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr2:191826200-191847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:191826200-191858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:191826400-191838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr2:191826600-191842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:191826600-191844800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:191826600-191845200	Strong transcription	A549	lung
17	chr2:191826600-191847400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:191826600-191847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:191826600-191850400	Strong transcription	Dnd41	blood
20	chr2:191826600-191850600	Strong transcription	Liver	Liver
21	chr2:191826600-191860400	Strong transcription	GM12878-XiMat	blood
22	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:191826800-191843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
26	chr2:191827400-191843000	Strong transcription	HMEC	breast
27	chr2:191827400-191843000	Strong transcription	Osteobl	bone
28	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
29	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:191829000-191844800	Strong transcription	Colonic Mucosa	Colon
33	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:191829200-191843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:191829400-191844400	Strong transcription	Fetal Intestine Large	intestine
38	chr2:191829400-191844600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:191829400-191844800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:191829400-191844800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
42	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:191829600-191844600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:191829800-191842400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:191829800-191850800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:191830000-191846400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:191831000-191873800	Strong transcription	HepG2	liver
50	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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