Variant report

Variant	rs72939397
Chromosome Location	chr2:97253505-97253506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97246980..97248993-chr2:97251599..97253720,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2312956	1.00[EUR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4440007	1.00[EUR][1000 genomes]
rs56246244	1.00[EUR][1000 genomes]
rs57537489	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	1.00[EUR][1000 genomes]
rs58225390	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[EUR][1000 genomes]
rs72939352	1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72941206	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941231	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73959007	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97220400-97258000	Weak transcription	Ovary	ovary
2	chr2:97220600-97257000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:97220800-97257400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:97223800-97256000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:97228800-97255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:97233000-97257800	Weak transcription	Gastric	stomach
7	chr2:97234600-97258200	Weak transcription	Aorta	Aorta
8	chr2:97237000-97257000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:97237800-97257800	Weak transcription	Thymus	Thymus
10	chr2:97238000-97257000	Weak transcription	Fetal Lung	lung
11	chr2:97238200-97258200	Weak transcription	Spleen	Spleen
12	chr2:97238400-97257400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:97239000-97257400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:97239400-97257600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:97239600-97258800	Weak transcription	Right Ventricle	heart
16	chr2:97241400-97257400	Weak transcription	Fetal Intestine Large	intestine
17	chr2:97242400-97258200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:97242600-97257600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:97243600-97257800	Weak transcription	HepG2	liver
20	chr2:97243800-97257800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:97244000-97257400	Weak transcription	Primary T cells from cord blood	blood
22	chr2:97244600-97257400	Weak transcription	HSMMtube	muscle
23	chr2:97244800-97258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:97244800-97259400	Weak transcription	Stomach Mucosa	stomach
25	chr2:97245000-97255000	Weak transcription	A549	lung
26	chr2:97245000-97257400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:97245600-97258200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:97246400-97257200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:97246800-97257400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:97246800-97258800	Weak transcription	Pancreas	Pancrea
31	chr2:97246800-97259200	Weak transcription	Fetal Brain Male	brain
32	chr2:97247000-97258200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:97247200-97256600	Weak transcription	Placenta	Placenta
34	chr2:97247200-97256800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:97247200-97259200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:97247400-97257800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:97247600-97257400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:97247600-97258200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:97247800-97256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:97247800-97257000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:97247800-97257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:97247800-97257400	Weak transcription	Fetal Thymus	thymus
43	chr2:97248000-97258400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:97248400-97257800	Weak transcription	GM12878-XiMat	blood
45	chr2:97248400-97258400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:97248400-97260000	Weak transcription	Colonic Mucosa	Colon
47	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:97248600-97257000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:97248600-97257600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:97248600-97257600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links