Variant report

Variant	rs16971500
Chromosome Location	chr15:41392884-41392885
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41391634..41395412-chr15:41405784..41409599,4	K562	blood:
2	chr15:41391907..41394522-chr15:41395092..41397540,2	K562	blood:
3	chr15:41391555..41394241-chr15:41403159..41405692,2	K562	blood:

Variant related genes	Relation type
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10518712	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11630905	1.00[EUR][1000 genomes]
rs1474228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971413	1.00[YRI][hapmap]
rs2412599	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2412600	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2412602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925348	1.00[EUR][1000 genomes]
rs2947492	1.00[EUR][1000 genomes]
rs2947496	1.00[EUR][1000 genomes]
rs4924534	1.00[EUR][1000 genomes]
rs538903	1.00[EUR][1000 genomes]
rs57008457	1.00[EUR][1000 genomes]
rs57902964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142514	1.00[EUR][1000 genomes]
rs59289835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59405359	1.00[EUR][1000 genomes]
rs60036819	0.80[AMR][1000 genomes]
rs6492975	0.80[AMR][1000 genomes]
rs692703	1.00[EUR][1000 genomes]
rs7162003	1.00[EUR][1000 genomes]
rs7162394	0.89[YRI][hapmap]
rs7163286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165020	1.00[YRI][hapmap]
rs7165159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174223	0.83[AMR][1000 genomes]
rs7183191	1.00[EUR][1000 genomes]
rs73399079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399082	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399100	1.00[EUR][1000 genomes]
rs73399681	0.80[AMR][1000 genomes]
rs73399694	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73401004	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401688	1.00[AMR][1000 genomes]
rs73401689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401695	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401700	1.00[AMR][1000 genomes]
rs8031345	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41355000-41393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:41355400-41393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41358000-41393600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:41361200-41407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:41378000-41397600	Weak transcription	Small Intestine	intestine
6	chr15:41380400-41393400	Strong transcription	Fetal Intestine Small	intestine
7	chr15:41383200-41406800	Weak transcription	A549	lung
8	chr15:41383800-41407400	Weak transcription	Esophagus	oesophagus
9	chr15:41384000-41407400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:41384200-41395600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:41384400-41396000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:41384400-41396000	Weak transcription	Psoas Muscle	Psoas
13	chr15:41384400-41407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:41385200-41406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:41386200-41398400	Weak transcription	Gastric	stomach
16	chr15:41386200-41407400	Weak transcription	Aorta	Aorta
17	chr15:41386600-41407400	Weak transcription	Colonic Mucosa	Colon
18	chr15:41386800-41396400	Weak transcription	Fetal Brain Male	brain
19	chr15:41386800-41398200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:41386800-41398400	Weak transcription	Brain Angular Gyrus	brain
21	chr15:41386800-41405400	Weak transcription	Spleen	Spleen
22	chr15:41386800-41406800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:41386800-41406800	Weak transcription	Right Ventricle	heart
24	chr15:41386800-41407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:41386800-41407200	Weak transcription	HSMMtube	muscle
26	chr15:41386800-41407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:41387000-41398200	Weak transcription	Lung	lung
28	chr15:41387000-41400400	Weak transcription	Brain Germinal Matrix	brain
29	chr15:41387200-41395200	Weak transcription	Brain Substantia Nigra	brain
30	chr15:41387200-41399200	Weak transcription	GM12878-XiMat	blood
31	chr15:41387200-41406000	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:41387200-41406600	Weak transcription	Pancreas	Pancrea
33	chr15:41387400-41407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:41388000-41394400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:41388000-41398400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:41388000-41406600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:41388200-41406600	Weak transcription	Adipose Nuclei	Adipose
38	chr15:41388400-41406400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:41388600-41395000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:41388600-41395000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:41388600-41395000	Weak transcription	Osteobl	bone
42	chr15:41388600-41396000	Weak transcription	HUVEC	blood vessel
43	chr15:41388600-41396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:41388600-41398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:41388600-41398400	Weak transcription	Left Ventricle	heart
46	chr15:41388600-41400200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:41388600-41400800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:41388600-41402200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:41388600-41404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:41388600-41405600	Weak transcription	Primary T cells fromperipheralblood	blood

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