Variant report

Variant	rs13430568
Chromosome Location	chr2:173326246-173326247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173320793..173322566-chr2:173325005..173326952,2	MCF-7	breast:
2	chr2:173320023..173322995-chr2:173325583..173327892,3	MCF-7	breast:
3	chr2:173290224..173292670-chr2:173326209..173328400,2	MCF-7	breast:
4	chr2:173036872..173037875-chr2:173325699..173327479,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165340	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202463	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901314	0.85[CHB][hapmap];0.94[ASN][1000 genomes]
rs13387469	0.88[ASN][1000 genomes]
rs16860422	0.94[ASN][1000 genomes]
rs16860435	0.94[ASN][1000 genomes]
rs1950099	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701267	0.94[ASN][1000 genomes]
rs2737081	0.94[ASN][1000 genomes]
rs59360025	0.94[ASN][1000 genomes]
rs59979740	0.94[ASN][1000 genomes]
rs6755175	0.85[CHB][hapmap];0.94[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
6	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
9	chr2:173321400-173326400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:173321400-173327000	Weak transcription	Placenta	Placenta
11	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:173322200-173326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:173322400-173326600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:173322600-173326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:173322600-173327000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:173322600-173327200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:173322600-173327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:173323200-173328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:173323400-173326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:173323400-173329800	Weak transcription	HSMMtube	muscle
21	chr2:173323800-173326400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:173324000-173326400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:173324000-173330200	Weak transcription	Psoas Muscle	Psoas
24	chr2:173324400-173326800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:173324400-173327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:173324400-173328400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:173324400-173328600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:173324400-173329600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr2:173324400-173330600	Enhancers	HUVEC	blood vessel
30	chr2:173324600-173326800	Weak transcription	Esophagus	oesophagus
31	chr2:173324600-173330400	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:173324800-173326400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:173324800-173327800	Enhancers	Brain Anterior Caudate	brain
34	chr2:173325000-173326400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:173325400-173326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:173325400-173328000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr2:173325400-173329400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:173325600-173326400	Enhancers	Stomach Mucosa	stomach
39	chr2:173325600-173326400	Enhancers	HSMM	muscle
40	chr2:173325600-173326600	Enhancers	Osteobl	bone
41	chr2:173325600-173327000	Genic enhancers	NHEK	skin
42	chr2:173325600-173327200	Enhancers	Liver	Liver
43	chr2:173325600-173328000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:173325600-173328600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:173325600-173328800	Enhancers	Adipose Nuclei	Adipose
46	chr2:173325800-173326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:173325800-173326800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:173325800-173327400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:173325800-173328200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:173325800-173328200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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