Variant report

Variant	rs72825719
Chromosome Location	chr2:99247465-99247466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99224674..99227884-chr2:99245399..99250153,4	MCF-7	breast:
2	chr2:99241190..99242773-chr2:99244709..99247701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11887056	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12618769	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623494	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13416843	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17513621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513782	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769693	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769694	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769695	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769696	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769697	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55934348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741558	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72825704	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825708	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825710	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72825711	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825718	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825725	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825727	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825732	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825733	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560357	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99230200-99250600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99231200-99247600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
5	chr2:99232400-99249000	Weak transcription	Psoas Muscle	Psoas
6	chr2:99232400-99250600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:99232600-99249400	Weak transcription	Aorta	Aorta
8	chr2:99232800-99250000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:99233800-99247600	Weak transcription	Spleen	Spleen
10	chr2:99234000-99252800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:99234200-99247600	Weak transcription	Fetal Stomach	stomach
12	chr2:99234400-99251000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
14	chr2:99234800-99248400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:99234800-99250800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:99234800-99264600	Weak transcription	Ovary	ovary
17	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
18	chr2:99235400-99248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:99235400-99273600	Weak transcription	Fetal Kidney	kidney
20	chr2:99236000-99248800	Weak transcription	Liver	Liver
21	chr2:99236000-99251200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:99238200-99247600	Weak transcription	Left Ventricle	heart
23	chr2:99238200-99247600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:99238400-99251200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:99238600-99256000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:99238800-99249000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:99239000-99248000	Weak transcription	Placenta	Placenta
28	chr2:99239000-99249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:99239000-99250400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:99239200-99247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:99239400-99248800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:99239400-99249000	Weak transcription	HUVEC	blood vessel
33	chr2:99240400-99248600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:99240400-99248600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:99243600-99265800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:99244200-99249800	Strong transcription	Fetal Thymus	thymus
37	chr2:99244200-99257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:99244200-99265600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:99244400-99250400	Strong transcription	Primary T cells from cord blood	blood
40	chr2:99244800-99257000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:99244800-99265400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:99245000-99250600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:99245000-99256800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:99245000-99268000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:99245200-99247600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:99245200-99250800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:99245200-99252800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:99245600-99248800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:99246000-99249400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:99246000-99250600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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