Variant report

Variant	rs7609093
Chromosome Location	chr2:209113944-209113945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209113508..209115266-chr2:209130064..209132288,2	MCF-7	breast:
2	chr2:209105823..209107971-chr2:209113114..209114666,2	MCF-7	breast:
3	chr2:209106594..209109969-chr2:209113559..209115828,3	K562	blood:

Variant related genes	Relation type
ENSG00000115020	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10202116	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538998	0.84[AFR][1000 genomes]
rs11554137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685614	1.00[EUR][1000 genomes]
rs11885913	0.84[AFR][1000 genomes]
rs11895188	0.95[AFR][1000 genomes]
rs17699838	0.82[AFR][1000 genomes]
rs17700235	0.84[AFR][1000 genomes]
rs34218846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3928183	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522113	0.95[AFR][1000 genomes]
rs59684347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435435	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66826643	0.84[AFR][1000 genomes]
rs67171462	0.90[AFR][1000 genomes]
rs67202912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725527	0.84[AFR][1000 genomes]
rs67581965	0.95[AFR][1000 genomes]
rs72976889	0.93[AMR][1000 genomes]
rs73070950	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070962	0.90[AFR][1000 genomes]
rs7565247	0.94[EUR][1000 genomes]
rs9646838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:209093000-209118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209099600-209114600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:209099800-209115000	Strong transcription	Fetal Brain Female	brain
4	chr2:209099800-209117000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:209099800-209117200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:209099800-209118000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:209100000-209115000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:209100000-209115000	Strong transcription	A549	lung
9	chr2:209100000-209117000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:209100000-209117000	Strong transcription	Left Ventricle	heart
11	chr2:209100200-209114000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:209100200-209114400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:209100200-209114600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:209100200-209114600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:209100200-209114600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:209100200-209114800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:209100200-209115200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:209100200-209115400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:209100200-209115600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:209100200-209118000	Strong transcription	Fetal Thymus	thymus
21	chr2:209100600-209115000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:209100600-209115000	Strong transcription	HMEC	breast
23	chr2:209100600-209117800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:209100800-209115000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:209100800-209115400	Strong transcription	Dnd41	blood
26	chr2:209100800-209116800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:209100800-209117800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:209100800-209117800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:209101000-209116400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:209101000-209118000	Strong transcription	Placenta	Placenta
31	chr2:209101200-209114800	Strong transcription	Primary B cells from cord blood	blood
32	chr2:209101200-209118000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr2:209101200-209118400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:209101400-209114600	Strong transcription	HUVEC	blood vessel
35	chr2:209101400-209117600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:209101400-209117800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:209101600-209117000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:209101800-209116600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:209101800-209116800	Strong transcription	Fetal Lung	lung
40	chr2:209102000-209114600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:209102000-209117200	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:209102000-209117800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:209102800-209114600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr2:209103000-209115200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:209103200-209117000	Weak transcription	Right Atrium	heart
46	chr2:209103200-209118200	Strong transcription	NH-A	brain
47	chr2:209103400-209114200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:209103400-209114600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:209103400-209118200	Strong transcription	NHDF-Ad	bronchial
50	chr2:209104200-209118000	Weak transcription	Right Ventricle	heart

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