Variant report

Variant	rs58448521
Chromosome Location	chr2:97577735-97577736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97523464..97526230-chr2:97576942..97579887,2	K562	blood:
2	chr2:97553127..97553990-chr2:97577295..97577812,2	K562	blood:
3	chr2:97575476..97578400-chr2:97584018..97588039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213337	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1047634	1.00[EUR][1000 genomes]
rs11886360	1.00[EUR][1000 genomes]
rs11892821	1.00[EUR][1000 genomes]
rs2314649	1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs56129857	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57184334	1.00[EUR][1000 genomes]
rs6576985	1.00[EUR][1000 genomes]
rs6576988	1.00[EUR][1000 genomes]
rs6576991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707008	1.00[EUR][1000 genomes]
rs6733535	1.00[EUR][1000 genomes]
rs6733826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6744498	1.00[EUR][1000 genomes]
rs6746421	1.00[EUR][1000 genomes]
rs6748214	1.00[EUR][1000 genomes]
rs6748234	1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs72947013	1.00[EUR][1000 genomes]
rs73960684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73960686	1.00[AMR][1000 genomes]
rs7580104	1.00[EUR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97572400-97579200	Enhancers	Fetal Brain Male	brain
2	chr2:97573200-97578000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:97573600-97577800	Weak transcription	K562	blood
4	chr2:97573600-97578000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:97573800-97579000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:97574000-97578000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:97574000-97578000	Weak transcription	Lung	lung
8	chr2:97574000-97578200	Weak transcription	Esophagus	oesophagus
9	chr2:97574000-97578200	Weak transcription	Fetal Thymus	thymus
10	chr2:97574000-97578600	Weak transcription	Placenta	Placenta
11	chr2:97574000-97582000	Weak transcription	Colonic Mucosa	Colon
12	chr2:97574200-97577800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:97574200-97578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:97574200-97578400	Weak transcription	Pancreas	Pancrea
15	chr2:97575400-97577800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:97575400-97579200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:97575600-97581600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:97575800-97578600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:97575800-97581800	Weak transcription	Right Atrium	heart
20	chr2:97576000-97578800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:97576000-97581600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:97576200-97578200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:97576400-97578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:97576800-97578400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:97576800-97578600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:97576800-97578600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:97576800-97580600	Enhancers	Left Ventricle	heart
28	chr2:97577000-97578400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:97577000-97578600	Enhancers	Fetal Brain Female	brain
30	chr2:97577000-97580600	Enhancers	Right Ventricle	heart
31	chr2:97577200-97578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:97577200-97578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:97577200-97578600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:97577200-97578800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:97577200-97580200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr2:97577200-97589600	Weak transcription	Fetal Heart	heart
37	chr2:97577400-97578200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:97577400-97578400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:97577400-97578600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:97577400-97578600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:97577400-97579000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr2:97577400-97579000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:97577400-97579200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:97577400-97579200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:97577400-97580600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:97577600-97577800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:97577600-97578000	Enhancers	Brain Angular Gyrus	brain
48	chr2:97577600-97578000	Enhancers	Brain Anterior Caudate	brain
49	chr2:97577600-97578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:97577600-97578200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links