Variant report

Variant	rs12595318
Chromosome Location	chr15:35242087-35242088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35241742..35244149-chr15:35278912..35280848,3	K562	blood:
2	chr15:35241441..35242954-chr15:35249082..35251825,2	K562	blood:
3	chr15:34949750..34952665-chr15:35241317..35244101,2	K562	blood:

Variant related genes	Relation type
ENSG00000198146	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10152246	0.93[ASN][1000 genomes]
rs10519967	0.87[ASN][1000 genomes]
rs11073076	0.86[ASN][1000 genomes]
rs11629721	0.82[ASN][1000 genomes]
rs11633307	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635485	0.81[ASN][1000 genomes]
rs11636350	0.81[ASN][1000 genomes]
rs11852957	0.89[ASN][1000 genomes]
rs11855784	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11857217	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11858044	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591197	0.81[ASN][1000 genomes]
rs12593379	0.87[ASN][1000 genomes]
rs12593603	0.83[ASN][1000 genomes]
rs12593818	0.84[ASN][1000 genomes]
rs12708534	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898639	0.90[ASN][1000 genomes]
rs12899377	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12901028	0.90[ASN][1000 genomes]
rs12901394	0.83[ASN][1000 genomes]
rs12901457	0.93[ASN][1000 genomes]
rs12901466	0.83[ASN][1000 genomes]
rs12901794	0.80[ASN][1000 genomes]
rs12901991	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902633	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12904279	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12915493	0.93[ASN][1000 genomes]
rs12917386	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12917597	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1376784	0.87[ASN][1000 genomes]
rs2044920	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2060809	0.85[ASN][1000 genomes]
rs2060810	0.81[ASN][1000 genomes]
rs2060811	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060812	0.81[ASN][1000 genomes]
rs2123048	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2290320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305411	0.81[ASN][1000 genomes]
rs2339746	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28498500	0.83[ASN][1000 genomes]
rs36067547	0.81[ASN][1000 genomes]
rs3743121	0.82[ASN][1000 genomes]
rs3816447	0.93[ASN][1000 genomes]
rs3848167	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4513050	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4923817	0.89[ASN][1000 genomes]
rs4923818	0.84[ASN][1000 genomes]
rs4923845	0.81[ASN][1000 genomes]
rs4924324	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924325	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924339	0.86[ASN][1000 genomes]
rs4924344	0.90[ASN][1000 genomes]
rs4924355	0.91[ASN][1000 genomes]
rs4924357	0.92[ASN][1000 genomes]
rs4924369	0.93[ASN][1000 genomes]
rs6495723	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495726	0.86[ASN][1000 genomes]
rs6495728	0.81[ASN][1000 genomes]
rs6495729	0.81[ASN][1000 genomes]
rs6495730	0.85[ASN][1000 genomes]
rs7164070	0.89[AFR][1000 genomes]
rs7164169	0.84[ASN][1000 genomes]
rs7164266	0.84[ASN][1000 genomes]
rs7164977	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7165835	0.86[ASN][1000 genomes]
rs7167892	0.90[ASN][1000 genomes]
rs7170280	0.80[ASN][1000 genomes]
rs7170737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7171808	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7177337	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7177962	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179205	0.85[ASN][1000 genomes]
rs7179833	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181836	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7182356	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7182492	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7497306	0.84[ASN][1000 genomes]
rs8024212	0.81[ASN][1000 genomes]
rs8025770	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8031583	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8031677	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8031861	0.81[ASN][1000 genomes]
rs8036690	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8037610	0.85[ASN][1000 genomes]
rs8040551	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs959478	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963425	0.93[ASN][1000 genomes]
rs9672656	0.83[ASN][1000 genomes]
rs9806487	0.93[ASN][1000 genomes]
rs9920529	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9920918	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv904071	chr15:35150897-35250771	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv904072	chr15:35150897-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv569154	chr15:35165366-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr15:35198800-35261200	Weak transcription	Esophagus	oesophagus
2	chr15:35207000-35259400	Weak transcription	Small Intestine	intestine
3	chr15:35220600-35260200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:35220800-35251400	Weak transcription	Aorta	Aorta
5	chr15:35221200-35260800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:35222800-35242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:35223400-35260600	Weak transcription	Fetal Heart	heart
8	chr15:35224200-35251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:35224200-35258800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:35225200-35250400	Weak transcription	Spleen	Spleen
11	chr15:35225200-35251400	Weak transcription	Colonic Mucosa	Colon
12	chr15:35225200-35254200	Weak transcription	Right Ventricle	heart
13	chr15:35225400-35259200	Weak transcription	Psoas Muscle	Psoas
14	chr15:35226000-35251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:35229400-35261000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:35231600-35242600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:35232200-35244400	Weak transcription	NHLF	lung
18	chr15:35232200-35260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:35232400-35256600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:35232600-35251400	Weak transcription	Fetal Brain Male	brain
21	chr15:35232800-35243000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:35232800-35247600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:35232800-35250400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:35232800-35258800	Weak transcription	Brain Germinal Matrix	brain
25	chr15:35233000-35242800	Weak transcription	HSMMtube	muscle
26	chr15:35233000-35244400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:35233200-35259600	Weak transcription	Brain Angular Gyrus	brain
28	chr15:35235000-35242600	Weak transcription	K562	blood
29	chr15:35235000-35242800	Weak transcription	NHDF-Ad	bronchial
30	chr15:35235000-35243000	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:35235000-35246600	Weak transcription	Ovary	ovary
32	chr15:35235000-35247200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:35235000-35251200	Weak transcription	HepG2	liver
34	chr15:35235000-35251400	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:35235000-35256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:35235000-35256400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:35235000-35258000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:35235000-35258800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:35235000-35260200	Weak transcription	Stomach Mucosa	stomach
40	chr15:35235000-35260800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:35235200-35243000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:35235200-35254000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr15:35235200-35260800	Weak transcription	Fetal Brain Female	brain
44	chr15:35235400-35246200	Weak transcription	Pancreas	Pancrea
45	chr15:35235400-35259400	Weak transcription	Gastric	stomach
46	chr15:35235600-35242400	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:35235600-35243000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:35236000-35243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:35236200-35243200	Weak transcription	GM12878-XiMat	blood
50	chr15:35236600-35260800	Weak transcription	Fetal Kidney	kidney

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