Variant report

Variant	rs284893
Chromosome Location	chr15:76718521-76718522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs157757	0.80[AFR][1000 genomes]
rs157760	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157761	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157762	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157768	0.86[EUR][1000 genomes]
rs157769	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs157775	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs157778	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs157788	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs157789	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs166906	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs166933	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16968196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172244	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182253	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1875883	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078437	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2460161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2469224	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2469535	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2469554	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469556	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283796	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs283799	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283802	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs284884	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs284885	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284886	0.83[ASN][1000 genomes]
rs284897	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284898	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284901	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284903	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284905	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938695	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2944377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2948703	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2956873	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957611	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2957612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957613	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs387321	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs454381	0.92[ASN][1000 genomes]
rs4886491	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886492	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs494268	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs506000	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8031378	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8031672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs284893	RP11-685G9.2	cis	Whole Blood	GTEx
rs284893	ISL2	cis	Whole Blood	GTEx
rs284893	ISL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76639800-76727400	Weak transcription	Right Ventricle	heart
2	chr15:76673200-76727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:76693600-76720400	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:76695800-76726000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:76696600-76720600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:76697000-76719200	Weak transcription	Primary T cells from cord blood	blood
7	chr15:76697000-76720800	Weak transcription	Aorta	Aorta
8	chr15:76697000-76722200	Weak transcription	Spleen	Spleen
9	chr15:76697000-76723400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:76697000-76724000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:76697000-76724400	Weak transcription	Pancreas	Pancrea
12	chr15:76697000-76726000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:76697000-76726400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:76697200-76720400	Weak transcription	Liver	Liver
15	chr15:76711200-76720800	Weak transcription	Left Ventricle	heart
16	chr15:76711600-76721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:76711600-76728400	Weak transcription	Placenta	Placenta
18	chr15:76711600-76767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:76713000-76720600	Weak transcription	Primary B cells from cord blood	blood
20	chr15:76716600-76725800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:76717000-76739000	Weak transcription	Gastric	stomach
22	chr15:76717400-76722200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:76717400-76724800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:76717600-76724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:76717600-76726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:76718000-76732800	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:76718200-76718800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:76718200-76718800	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr15:76718200-76718800	ZNF genes & repeats	Fetal Stomach	stomach
30	chr15:76718200-76721200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:76718400-76718600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:76718400-76718600	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr15:76718400-76718800	ZNF genes & repeats	Ovary	ovary
34	chr15:76718400-76719200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr15:76718400-76719200	ZNF genes & repeats	Fetal Intestine Large	intestine

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