Variant report

Variant	rs7593493
Chromosome Location	chr2:97611040-97611041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97593079..97595761-chr2:97610309..97612061,2	K562	blood:
2	chr2:97532156..97535050-chr2:97609348..97611629,2	K562	blood:
3	chr2:97480838..97482571-chr2:97609984..97612595,2	MCF-7	breast:
4	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
5	chr2:97609025..97611180-chr2:97613152..97616162,3	K562	blood:
6	chr2:97497731..97500526-chr2:97610997..97613941,2	MCF-7	breast:
7	chr2:97524495..97526579-chr2:97610763..97613644,2	K562	blood:
8	chr2:97610586..97615218-chr2:97625029..97628319,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10202644	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1257000	0.82[ASN][1000 genomes]
rs1257008	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1257009	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1257011	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1257012	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1257015	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1257016	0.83[ASN][1000 genomes]
rs1257017	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1257018	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1257019	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1257020	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1257027	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1257028	0.83[AMR][1000 genomes]
rs1257029	0.81[ASN][1000 genomes]
rs1268682	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12717785	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12717786	0.87[EUR][1000 genomes]
rs12717787	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13016654	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13021723	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1623881	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624844	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1730106	0.83[ASN][1000 genomes]
rs1730111	0.81[ASN][1000 genomes]
rs1730119	0.83[ASN][1000 genomes]
rs1730120	0.83[ASN][1000 genomes]
rs1730122	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1730123	0.86[ASN][1000 genomes]
rs1730124	0.83[ASN][1000 genomes]
rs1730126	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1730127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1730128	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1730129	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1730130	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1730131	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1796027	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796028	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796029	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796032	0.86[ASN][1000 genomes]
rs1796038	0.83[ASN][1000 genomes]
rs1796041	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1796044	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796045	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796046	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1796047	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796049	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34434950	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34895357	0.83[AMR][1000 genomes]
rs4263148	0.83[ASN][1000 genomes]
rs4366944	0.86[ASN][1000 genomes]
rs4586672	0.86[ASN][1000 genomes]
rs6576992	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576993	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6576994	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576995	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576999	0.83[ASN][1000 genomes]
rs6707255	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6714860	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6715329	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6725927	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757916	0.83[ASN][1000 genomes]
rs7569434	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7584318	0.86[AMR][1000 genomes]
rs7584335	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7597743	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	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
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97606200-97616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97609600-97612000	Enhancers	HepG2	liver
3	chr2:97610000-97611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:97610000-97611400	Enhancers	Brain Anterior Caudate	brain
5	chr2:97610200-97611200	Enhancers	Fetal Thymus	thymus
6	chr2:97610200-97611200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:97610200-97611600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:97610200-97611600	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:97610200-97611600	Enhancers	K562	blood
10	chr2:97610200-97611800	Enhancers	Brain Hippocampus Middle	brain
11	chr2:97610200-97611800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:97610400-97611200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:97610400-97611200	Enhancers	Brain Germinal Matrix	brain
14	chr2:97610400-97611400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:97610400-97611400	Enhancers	Brain Angular Gyrus	brain
16	chr2:97610400-97611400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:97610400-97611400	Enhancers	Fetal Brain Female	brain
18	chr2:97610400-97611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:97610400-97611600	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:97610400-97616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:97610400-97617400	Enhancers	Brain Substantia Nigra	brain
22	chr2:97610600-97611200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:97610600-97611200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:97610600-97611400	Enhancers	Fetal Stomach	stomach
25	chr2:97610600-97611400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:97610600-97611800	Enhancers	Colon Smooth Muscle	Colon
27	chr2:97610600-97611800	Enhancers	Fetal Heart	heart
28	chr2:97610800-97611200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:97610800-97611200	Enhancers	HSMMtube	muscle
30	chr2:97610800-97611400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:97610800-97611400	Enhancers	Fetal Brain Male	brain
32	chr2:97610800-97611600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:97610800-97611600	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:97611000-97611400	Enhancers	Fetal Lung	lung
35	chr2:97611000-97615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:97611000-97616400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:97611000-97616600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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