Variant report

Variant	rs59073958
Chromosome Location	chr2:97352693-97352694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97350901..97353788-chr2:97370557..97372504,2	MCF-7	breast:
2	chr2:97351329..97353890-chr2:97367677..97369829,2	K562	blood:
3	chr2:97347276..97349310-chr2:97352679..97354185,2	K562	blood:
4	chr2:97352642..97354729-chr2:97359126..97361409,2	K562	blood:
5	chr2:97350855..97354429-chr2:97356472..97360130,5	K562	blood:

Variant related genes	Relation type
ENSG00000249715	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17119562	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17119564	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17119591	0.92[EUR][1000 genomes]
rs2139406	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2280356	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2314399	0.92[EUR][1000 genomes]
rs2872633	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3731940	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56913233	0.92[EUR][1000 genomes]
rs57582887	0.92[EUR][1000 genomes]
rs59648446	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61742095	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61750875	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152766	0.92[EUR][1000 genomes]
rs62152767	0.92[EUR][1000 genomes]
rs62152771	0.92[EUR][1000 genomes]
rs62152780	0.92[EUR][1000 genomes]
rs62152787	0.92[EUR][1000 genomes]
rs62156206	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156207	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156208	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62156209	0.86[EUR][1000 genomes]
rs62156210	0.92[EUR][1000 genomes]
rs62156211	0.92[EUR][1000 genomes]
rs62156212	0.92[EUR][1000 genomes]
rs62156213	0.92[EUR][1000 genomes]
rs62156216	0.92[EUR][1000 genomes]
rs62156219	0.90[EUR][1000 genomes]
rs62156220	0.92[EUR][1000 genomes]
rs62156221	0.92[EUR][1000 genomes]
rs62156222	0.92[EUR][1000 genomes]
rs62156223	0.90[EUR][1000 genomes]
rs62156228	0.92[EUR][1000 genomes]
rs62156232	0.90[EUR][1000 genomes]
rs6576981	0.90[EUR][1000 genomes]
rs6751132	0.90[EUR][1000 genomes]
rs6758151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7568206	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97346200-97368000	Weak transcription	Aorta	Aorta
2	chr2:97350000-97353200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:97350200-97352800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:97350200-97353800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:97350200-97355600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:97350400-97367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:97350600-97354400	Enhancers	Fetal Heart	heart
8	chr2:97351000-97359800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:97351800-97353600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:97351800-97368400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:97351800-97372800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:97351800-97373600	Weak transcription	Fetal Brain Male	brain
13	chr2:97352000-97353000	Weak transcription	Pancreas	Pancrea
14	chr2:97352000-97353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97352000-97353400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:97352000-97353600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:97352000-97359600	Weak transcription	Lung	lung
18	chr2:97352000-97360200	Weak transcription	Fetal Lung	lung
19	chr2:97352000-97360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:97352000-97360800	Weak transcription	Right Atrium	heart
21	chr2:97352000-97363000	Weak transcription	Esophagus	oesophagus
22	chr2:97352000-97368000	Weak transcription	Ovary	ovary
23	chr2:97352000-97368200	Weak transcription	Gastric	stomach
24	chr2:97352200-97353200	Weak transcription	Spleen	Spleen
25	chr2:97352200-97355600	Weak transcription	Placenta	Placenta
26	chr2:97352200-97367800	Weak transcription	Right Ventricle	heart
27	chr2:97352400-97353000	Bivalent Enhancer	HepG2	liver
28	chr2:97352400-97360000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:97352400-97360600	Weak transcription	Fetal Stomach	stomach
30	chr2:97352400-97362800	Weak transcription	Fetal Intestine Large	intestine

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