Variant report

Variant	rs2193258
Chromosome Location	chr7:117446092-117446093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117445818..117448330-chr7:117452040..117454903,3	MCF-7	breast:
2	chr22:32877452..32880294-chr7:117444818..117446964,2	MCF-7	breast:
3	chr7:117446014..117448136-chr7:117449356..117451323,3	K562	blood:
4	7:115847372-115857098..7:117443609-117447668	GM12878	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10226236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226907	1.00[JPT][hapmap]
rs10230544	1.00[JPT][hapmap]
rs10231905	1.00[JPT][hapmap]
rs10234869	1.00[JPT][hapmap]
rs10242695	1.00[JPT][hapmap]
rs10247163	1.00[JPT][hapmap]
rs10249419	1.00[JPT][hapmap]
rs10254610	1.00[JPT][hapmap]
rs10258815	1.00[JPT][hapmap]
rs10274022	1.00[JPT][hapmap]
rs10278481	1.00[JPT][hapmap]
rs11768272	1.00[JPT][hapmap]
rs1468262	1.00[JPT][hapmap]
rs17140352	1.00[JPT][hapmap]
rs17550204	1.00[JPT][hapmap]
rs17550567	1.00[JPT][hapmap]
rs2079178	1.00[JPT][hapmap]
rs2111204	0.91[CEU][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2189388	1.00[JPT][hapmap]
rs2402264	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730797	1.00[JPT][hapmap]
rs4730798	1.00[JPT][hapmap]
rs4730799	1.00[JPT][hapmap]
rs4730801	1.00[JPT][hapmap]
rs4730802	1.00[JPT][hapmap]
rs6466624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6967118	1.00[JPT][hapmap]
rs6977789	1.00[JPT][hapmap]
rs6978213	1.00[JPT][hapmap]
rs739797	1.00[JPT][hapmap]
rs739798	1.00[JPT][hapmap]
rs7779353	1.00[JPT][hapmap]
rs7796168	1.00[JPT][hapmap]
rs7796211	1.00[JPT][hapmap]
rs7804816	1.00[JPT][hapmap]
rs7806235	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929668	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
3	chr7:117431800-117447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
5	chr7:117432400-117447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:117432400-117447800	Weak transcription	Brain Germinal Matrix	brain
7	chr7:117432600-117446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:117432600-117447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:117432600-117447800	Weak transcription	Fetal Lung	lung
10	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:117432800-117447600	Weak transcription	Adipose Nuclei	Adipose
12	chr7:117432800-117448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
14	chr7:117433800-117447800	Weak transcription	Esophagus	oesophagus
15	chr7:117434200-117447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:117434800-117447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:117437400-117456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:117437600-117447800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:117441600-117447200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:117443400-117447600	Weak transcription	Fetal Brain Male	brain
21	chr7:117443400-117447800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:117443800-117447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:117444000-117448400	Weak transcription	NHLF	lung
24	chr7:117444400-117447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:117444400-117451600	Enhancers	Fetal Heart	heart
26	chr7:117444600-117446600	Enhancers	Brain Angular Gyrus	brain
27	chr7:117445000-117450800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:117445200-117447000	Enhancers	Brain Substantia Nigra	brain
29	chr7:117445400-117446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:117445400-117448400	Enhancers	Brain Anterior Caudate	brain
31	chr7:117445600-117446400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:117445600-117447400	Weak transcription	Fetal Brain Female	brain
33	chr7:117445600-117450200	Weak transcription	Pancreas	Pancrea
34	chr7:117445800-117446400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:117446000-117446400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:117446000-117446600	Enhancers	HUES48 Cell Line	embryonic stem cell

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