Variant report

Variant	rs72751548
Chromosome Location	chr9:100454230-100454231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100453377..100456368-chr9:100458057..100460182,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136936	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10116536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119687	0.96[EUR][1000 genomes]
rs10120102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123969	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983405	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983424	0.93[EUR][1000 genomes]
rs10983428	0.93[EUR][1000 genomes]
rs12344605	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346336	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347253	0.92[EUR][1000 genomes]
rs12349178	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350221	0.93[EUR][1000 genomes]
rs12350946	0.93[EUR][1000 genomes]
rs16923269	1.00[EUR][1000 genomes]
rs16923677	0.98[EUR][1000 genomes]
rs16923719	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923815	0.91[EUR][1000 genomes]
rs17335265	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376250	0.89[EUR][1000 genomes]
rs3176639	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284139	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480232	0.97[EUR][1000 genomes]
rs4617277	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047578	0.92[EUR][1000 genomes]
rs7031623	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849509	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952765	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100401200-100456000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:100402400-100455600	Strong transcription	Dnd41	blood
3	chr9:100402600-100456000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:100402600-100456200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr9:100402800-100456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:100403000-100454400	Strong transcription	Placenta	Placenta
7	chr9:100403000-100454600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:100403200-100454400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr9:100403200-100455000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr9:100404800-100455400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:100423000-100456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:100429200-100455000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr9:100429200-100455600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:100429600-100455400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:100429600-100455800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:100429800-100456000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:100434400-100455600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:100436600-100454600	Strong transcription	Adipose Nuclei	Adipose
19	chr9:100437400-100456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:100437600-100455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:100437600-100458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:100438000-100458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:100438400-100457200	Weak transcription	Psoas Muscle	Psoas
24	chr9:100438400-100457400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:100438600-100457800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:100439000-100458800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:100439800-100454400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:100440000-100454400	Strong transcription	Fetal Muscle Leg	muscle
29	chr9:100442000-100455200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:100445000-100455000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:100446400-100454400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:100446800-100456800	Weak transcription	Small Intestine	intestine
33	chr9:100446800-100457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:100446800-100457800	Weak transcription	Aorta	Aorta
35	chr9:100447000-100457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:100447200-100456400	Weak transcription	K562	blood
37	chr9:100447200-100457200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:100447200-100457400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:100447200-100458400	Weak transcription	Colonic Mucosa	Colon
40	chr9:100448600-100454600	Strong transcription	Fetal Stomach	stomach
41	chr9:100448600-100455800	Strong transcription	Fetal Brain Female	brain
42	chr9:100448600-100455800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:100449800-100454600	Strong transcription	Spleen	Spleen
44	chr9:100450200-100457000	Weak transcription	HMEC	breast
45	chr9:100451200-100456400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:100451200-100458400	Weak transcription	Esophagus	oesophagus
47	chr9:100451400-100455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:100451600-100456200	Weak transcription	Brain Angular Gyrus	brain
49	chr9:100451600-100456800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:100451600-100458000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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