Variant report

Variant	rs72732391
Chromosome Location	chr1:98096628-98096629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2786514	1.00[AMR][1000 genomes]
rs2786524	1.00[AMR][1000 genomes]
rs2786525	1.00[AMR][1000 genomes]
rs2786526	1.00[AMR][1000 genomes]
rs2786527	1.00[AMR][1000 genomes]
rs2786528	1.00[AMR][1000 genomes]
rs2786531	1.00[AMR][1000 genomes]
rs2786532	1.00[AMR][1000 genomes]
rs2786535	1.00[AMR][1000 genomes]
rs2786538	1.00[AMR][1000 genomes]
rs2811161	1.00[AMR][1000 genomes]
rs2811162	1.00[AMR][1000 genomes]
rs2811163	1.00[AMR][1000 genomes]
rs2811164	1.00[AMR][1000 genomes]
rs2811165	1.00[AMR][1000 genomes]
rs2811166	1.00[AMR][1000 genomes]
rs2811217	1.00[AMR][1000 genomes]
rs3120632	1.00[AMR][1000 genomes]
rs60470684	1.00[AMR][1000 genomes]
rs72729991	1.00[AMR][1000 genomes]
rs72730001	1.00[AMR][1000 genomes]
rs72730002	1.00[AMR][1000 genomes]
rs72732305	1.00[AMR][1000 genomes]
rs72732316	1.00[AMR][1000 genomes]
rs72732318	1.00[AMR][1000 genomes]
rs72732327	1.00[AMR][1000 genomes]
rs72732393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72732402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72734005	1.00[AMR][1000 genomes]
rs72977744	1.00[AMR][1000 genomes]
rs7522200	1.00[AMR][1000 genomes]
rs7533929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv546867	chr1:98084369-98111930	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98009800-98112200	Weak transcription	HSMM	muscle
2	chr1:98063000-98111400	Weak transcription	Liver	Liver
3	chr1:98077400-98099400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:98081800-98100600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:98083200-98099000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:98085200-98103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:98087400-98111400	Weak transcription	Dnd41	blood
8	chr1:98087800-98143600	Weak transcription	Ovary	ovary
9	chr1:98088800-98098200	Weak transcription	Small Intestine	intestine
10	chr1:98088800-98109600	Weak transcription	Psoas Muscle	Psoas
11	chr1:98089000-98097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:98090800-98106000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:98091200-98097800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:98092200-98106400	Weak transcription	NHLF	lung
15	chr1:98094400-98097800	Weak transcription	Osteobl	bone
16	chr1:98094400-98098400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:98094800-98096800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:98094800-98099200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:98095800-98097000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:98095800-98097600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:98095800-98112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:98096000-98096800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:98096000-98096800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:98096000-98096800	Enhancers	Fetal Brain Male	brain
25	chr1:98096000-98096800	Enhancers	Right Atrium	heart
26	chr1:98096000-98097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:98096000-98097000	Enhancers	Brain Hippocampus Middle	brain
28	chr1:98096000-98097000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:98096000-98097000	Enhancers	Left Ventricle	heart
30	chr1:98096000-98097000	Enhancers	Lung	lung
31	chr1:98096000-98098000	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:98096000-98098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:98096000-98098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:98096000-98098000	Enhancers	Fetal Lung	lung
35	chr1:98096000-98098200	Enhancers	HUVEC	blood vessel
36	chr1:98096000-98098400	Enhancers	NH-A	brain
37	chr1:98096200-98097200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:98096200-98098600	Enhancers	Fetal Heart	heart
39	chr1:98096200-98100600	Weak transcription	Pancreas	Pancrea
40	chr1:98096400-98096800	Enhancers	Brain Angular Gyrus	brain
41	chr1:98096400-98097000	Enhancers	Brain Anterior Caudate	brain
42	chr1:98096400-98097000	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:98096400-98097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:98096400-98097800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:98096400-98098200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:98096400-98106800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:98096600-98096800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:98096600-98097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:98096600-98097000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:98096600-98097000	Enhancers	Brain Substantia Nigra	brain

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