Variant report

Variant	rs72939374
Chromosome Location	chr2:97194896-97194897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	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	1.00[EUR][1000 genomes]
rs57754441	1.00[EUR][1000 genomes]
rs58225390	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]
rs72939397	1.00[EUR][1000 genomes]
rs72941206	1.00[EUR][1000 genomes]
rs72941231	1.00[EUR][1000 genomes]
rs73959007	1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97192000-97197200	Weak transcription	Pancreas	Pancrea
2	chr2:97192400-97195600	Enhancers	Spleen	Spleen
3	chr2:97192800-97195000	Enhancers	Brain Angular Gyrus	brain
4	chr2:97192800-97195200	Enhancers	Fetal Heart	heart
5	chr2:97193200-97195000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:97193200-97201000	Enhancers	NHDF-Ad	bronchial
7	chr2:97193600-97195000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:97193600-97195000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:97193600-97195000	Flanking Active TSS	Osteobl	bone
10	chr2:97193600-97195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:97193600-97197400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:97193600-97197400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:97193800-97195000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:97193800-97195000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:97193800-97195000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:97193800-97195200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:97193800-97195200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:97193800-97195600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:97193800-97195600	Weak transcription	Aorta	Aorta
20	chr2:97193800-97196200	Enhancers	Left Ventricle	heart
21	chr2:97193800-97197400	Enhancers	Fetal Muscle Leg	muscle
22	chr2:97193800-97198400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:97194000-97195000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:97194000-97195000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:97194000-97195000	Enhancers	Brain Anterior Caudate	brain
26	chr2:97194000-97195000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:97194000-97195000	Enhancers	Esophagus	oesophagus
28	chr2:97194000-97195000	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:97194000-97195200	Enhancers	Adipose Nuclei	Adipose
30	chr2:97194000-97195200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:97194000-97195200	Enhancers	HUVEC	blood vessel
32	chr2:97194000-97195600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:97194000-97196200	Enhancers	Ovary	ovary
34	chr2:97194000-97197200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:97194000-97197400	Enhancers	Right Ventricle	heart
36	chr2:97194000-97197600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:97194000-97197600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:97194000-97202600	Enhancers	Placenta	Placenta
39	chr2:97194200-97195000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:97194200-97195000	Enhancers	Primary T cells from cord blood	blood
41	chr2:97194200-97195000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:97194200-97197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:97194200-97197400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:97194400-97195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:97194400-97195000	Enhancers	Fetal Thymus	thymus
46	chr2:97194400-97195200	Enhancers	Colon Smooth Muscle	Colon
47	chr2:97194400-97195200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr2:97194400-97197000	Weak transcription	Primary B cells from cord blood	blood
49	chr2:97194400-97197200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:97194400-97197400	Enhancers	Primary hematopoietic stem cells	blood

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