Variant report

Variant	rs6700063
Chromosome Location	chr1:97816576-97816577
allele	G/T
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]
rs1000391	1.00[TSI][hapmap]
rs10783061	0.89[LWK][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap]
rs10875074	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11165851	0.89[LWK][hapmap];0.80[MKK][hapmap];0.91[YRI][hapmap]
rs12124566	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1607778	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949950	0.86[YRI][hapmap]
rs6685658	1.00[MEX][hapmap]
rs7414298	1.00[MEX][hapmap]
rs7521567	0.89[LWK][hapmap];0.91[YRI][hapmap]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97781600-97822200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:97789800-97823600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:97791800-97823600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:97792800-97820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
6	chr1:97795600-97823600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:97795600-97830000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:97801200-97822400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:97802200-97823200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:97803200-97843200	Weak transcription	Spleen	Spleen
12	chr1:97804200-97823400	Weak transcription	Esophagus	oesophagus
13	chr1:97805200-97823200	Weak transcription	Fetal Lung	lung
14	chr1:97805800-97846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:97814400-97816800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:97814400-97818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:97814400-97818400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:97814400-97818400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:97814400-97818600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:97814400-97818800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:97814400-97823600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:97814400-97824600	Weak transcription	Right Ventricle	heart
23	chr1:97814600-97818200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:97814600-97818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:97814600-97818400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:97815000-97819400	Weak transcription	Liver	Liver
27	chr1:97815400-97817600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:97815600-97816800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:97815600-97817000	Enhancers	NHDF-Ad	bronchial
30	chr1:97815600-97818000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:97815600-97818000	Enhancers	Osteobl	bone
32	chr1:97815600-97818200	Enhancers	Adipose Nuclei	Adipose
33	chr1:97815800-97816600	Enhancers	HSMM	muscle
34	chr1:97816000-97816600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:97816000-97816800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:97816000-97817200	Enhancers	Colon Smooth Muscle	Colon
37	chr1:97816000-97818800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:97816000-97843200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:97816200-97816600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:97816200-97816600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:97816200-97817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:97816400-97816600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:97816400-97816600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:97816400-97816600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:97816400-97816600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:97816400-97816800	Enhancers	Dnd41	blood
47	chr1:97816400-97817000	Enhancers	Fetal Heart	heart
48	chr1:97816400-97817000	Enhancers	Fetal Stomach	stomach
49	chr1:97816400-97817200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:97816400-97817200	Enhancers	Fetal Kidney	kidney

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