Variant report

Variant	rs6749222
Chromosome Location	chr2:100263918-100263919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1357720	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1568785	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4850906	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4850909	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851218	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62154537	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712722	0.81[EUR][1000 genomes]
rs6728983	0.80[EUR][1000 genomes]
rs7583638	0.81[EUR][1000 genomes]
rs882855	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100254000-100265000	Weak transcription	Spleen	Spleen
3	chr2:100255400-100268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100255400-100285400	Weak transcription	Dnd41	blood
6	chr2:100256600-100267400	Weak transcription	Fetal Thymus	thymus
7	chr2:100257600-100265000	Weak transcription	Left Ventricle	heart
8	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
9	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100260600-100265000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:100260800-100274400	Weak transcription	Right Atrium	heart
13	chr2:100261200-100264200	Weak transcription	Fetal Heart	heart
14	chr2:100261200-100264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:100261200-100265000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:100261400-100264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:100261400-100264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:100261400-100264400	Weak transcription	NHDF-Ad	bronchial
19	chr2:100261400-100264600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:100261400-100264600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:100261400-100264800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:100261400-100264800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:100261400-100264800	Weak transcription	Fetal Stomach	stomach
24	chr2:100261400-100264800	Weak transcription	Pancreas	Pancrea
25	chr2:100261400-100265000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:100261400-100265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:100261400-100265000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:100261400-100266800	Enhancers	Fetal Brain Male	brain
29	chr2:100261400-100268400	Weak transcription	NH-A	brain
30	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
31	chr2:100261600-100264000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:100261600-100264400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:100261600-100265000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:100261600-100265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:100261800-100265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:100262200-100264200	Weak transcription	Fetal Brain Female	brain
37	chr2:100262400-100266800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:100262600-100264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:100262800-100264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:100263200-100264800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:100263800-100264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:100263800-100264400	Enhancers	Ovary	ovary
43	chr2:100263800-100265000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:100263800-100266600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links