Variant report

Variant	rs2623193
Chromosome Location	chr15:99721933-99721934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99715590..99718569-chr15:99720047..99722530,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12915090	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1318292	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1670224	0.85[AFR][1000 genomes]
rs1703762	0.81[AFR][1000 genomes]
rs1703767	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1703768	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1703771	0.82[AFR][1000 genomes]
rs2602018	0.93[AFR][1000 genomes]
rs2602020	0.81[AFR][1000 genomes]
rs2602021	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602026	0.89[AFR][1000 genomes]
rs2602029	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602034	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2623180	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2623181	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2623187	0.89[ASN][1000 genomes]
rs2623188	0.87[AFR][1000 genomes]
rs2623189	0.89[AFR][1000 genomes]
rs2623190	0.89[AFR][1000 genomes]
rs2623191	0.82[AFR][1000 genomes]
rs2924346	0.87[AFR][1000 genomes]
rs7161931	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2623193	SYNM	cis	Adipose Subcutaneous	GTEx
rs2623193	RP11-6O2.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
2	chr15:99694800-99732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:99694800-99732600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:99695200-99732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:99697000-99756400	Weak transcription	Stomach Mucosa	stomach
6	chr15:99699400-99731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:99700200-99731200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:99700400-99730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:99703400-99728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:99705000-99732400	Weak transcription	Fetal Kidney	kidney
11	chr15:99709400-99732600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:99709600-99731400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:99709600-99732600	Weak transcription	GM12878-XiMat	blood
14	chr15:99709800-99732600	Weak transcription	Spleen	Spleen
15	chr15:99710200-99724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:99710400-99732400	Weak transcription	Fetal Brain Female	brain
17	chr15:99711400-99730800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:99711600-99725000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:99711600-99738600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:99711800-99732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:99712800-99731600	Weak transcription	Colonic Mucosa	Colon
22	chr15:99714400-99724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:99714400-99725000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:99715200-99725600	Weak transcription	NH-A	brain
25	chr15:99715400-99724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:99715400-99731400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:99715600-99724000	Weak transcription	Fetal Intestine Large	intestine
28	chr15:99715600-99732600	Weak transcription	Pancreas	Pancrea
29	chr15:99715600-99732600	Weak transcription	NHEK	skin
30	chr15:99715600-99738600	Weak transcription	Hela-S3	cervix
31	chr15:99715800-99722800	Enhancers	Stomach Smooth Muscle	stomach
32	chr15:99715800-99724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:99715800-99724000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:99715800-99724000	Weak transcription	Lung	lung
35	chr15:99715800-99724400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:99716000-99724000	Weak transcription	Liver	Liver
37	chr15:99716000-99732400	Weak transcription	Esophagus	oesophagus
38	chr15:99717000-99722800	Enhancers	Fetal Brain Male	brain
39	chr15:99717400-99724000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:99717400-99761000	Weak transcription	Gastric	stomach
41	chr15:99717800-99758000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:99718200-99749200	Weak transcription	HUVEC	blood vessel
43	chr15:99719000-99722000	Enhancers	Right Ventricle	heart
44	chr15:99719000-99722600	Enhancers	Psoas Muscle	Psoas
45	chr15:99719200-99722000	Enhancers	Left Ventricle	heart
46	chr15:99719400-99722000	Enhancers	Brain Substantia Nigra	brain
47	chr15:99719400-99723000	Enhancers	Colon Smooth Muscle	Colon
48	chr15:99719400-99724000	Weak transcription	Fetal Intestine Small	intestine
49	chr15:99719400-99732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:99719600-99722200	Enhancers	Brain Hippocampus Middle	brain

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