Variant report

Variant	rs28847691
Chromosome Location	chr15:41749148-41749149
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41707489..41710203-chr15:41748208..41749714,2	K562	blood:

Variant related genes	Relation type
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10152497	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10153010	0.89[ASN][1000 genomes]
rs10467974	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10518718	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11549913	0.82[EUR][1000 genomes]
rs11630191	0.89[ASN][1000 genomes]
rs11631770	0.88[ASN][1000 genomes]
rs12324291	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971798	0.83[ASN][1000 genomes]
rs16971806	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1757455	0.91[ASN][1000 genomes]
rs2015781	0.80[ASN][1000 genomes]
rs2777491	0.88[ASN][1000 genomes]
rs28393472	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28600680	0.85[ASN][1000 genomes]
rs28643296	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28655070	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28716108	0.82[ASN][1000 genomes]
rs28792672	0.83[ASN][1000 genomes]
rs316605	0.91[ASN][1000 genomes]
rs316609	0.91[ASN][1000 genomes]
rs316610	0.92[ASN][1000 genomes]
rs316613	0.96[ASN][1000 genomes]
rs316614	0.96[ASN][1000 genomes]
rs316615	0.91[ASN][1000 genomes]
rs35826725	0.96[ASN][1000 genomes]
rs3743038	0.85[ASN][1000 genomes]
rs58335029	0.82[EUR][1000 genomes]
rs58910172	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59590312	0.83[ASN][1000 genomes]
rs61127691	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66538814	0.85[ASN][1000 genomes]
rs7163788	0.91[ASN][1000 genomes]
rs7167498	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7167729	0.91[ASN][1000 genomes]
rs7168177	0.92[ASN][1000 genomes]
rs7172148	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175690	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7175800	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7176314	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7177641	0.88[ASN][1000 genomes]
rs7180492	0.95[ASN][1000 genomes]
rs7181911	0.85[ASN][1000 genomes]
rs7182667	0.84[ASN][1000 genomes]
rs73404980	0.82[EUR][1000 genomes]
rs73404987	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73404994	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73404995	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73404996	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73405000	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73405001	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73407109	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023619	0.82[EUR][1000 genomes]
rs8026197	0.91[ASN][1000 genomes]
rs8027626	0.91[ASN][1000 genomes]
rs8034819	0.93[ASN][1000 genomes]
rs8036527	0.91[ASN][1000 genomes]
rs8037824	0.89[ASN][1000 genomes]
rs823716	0.93[ASN][1000 genomes]
rs919961	0.83[ASN][1000 genomes]
rs9672866	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9972288	0.83[ASN][1000 genomes]
rs9972547	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers 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	66 gene(s)	inside rSNPs	diseases
2	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
3	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41710400-41750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41711600-41759000	Weak transcription	Fetal Heart	heart
3	chr15:41719000-41749800	Weak transcription	NHLF	lung
4	chr15:41719000-41765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:41722000-41749200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:41722000-41749600	Weak transcription	Gastric	stomach
7	chr15:41722000-41768400	Weak transcription	Small Intestine	intestine
8	chr15:41724200-41777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:41728200-41749800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:41729200-41773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:41729400-41756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:41730000-41768400	Weak transcription	Psoas Muscle	Psoas
13	chr15:41730400-41749800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:41730800-41769000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:41732800-41749800	Weak transcription	Colonic Mucosa	Colon
16	chr15:41734000-41750200	Weak transcription	Fetal Brain Male	brain
17	chr15:41734200-41749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:41734200-41749600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:41734200-41749800	Weak transcription	Right Ventricle	heart
20	chr15:41734200-41749800	Weak transcription	K562	blood
21	chr15:41734200-41750400	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:41734200-41758800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:41734800-41749800	Weak transcription	HUVEC	blood vessel
24	chr15:41735000-41749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:41735400-41749800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:41735600-41749800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:41735800-41749800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:41735800-41749800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:41735800-41749800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:41735800-41749800	Weak transcription	Fetal Kidney	kidney
31	chr15:41735800-41749800	Weak transcription	NH-A	brain
32	chr15:41735800-41750200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:41739800-41749800	Weak transcription	NHDF-Ad	bronchial
34	chr15:41743200-41751600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:41743800-41750000	Strong transcription	Placenta	Placenta
36	chr15:41743800-41751000	Strong transcription	Primary T cells from cord blood	blood
37	chr15:41743800-41751600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:41743800-41751600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:41743800-41751600	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:41743800-41751800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:41743800-41752000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:41743800-41762200	Weak transcription	Stomach Mucosa	stomach
43	chr15:41744000-41771800	Strong transcription	Fetal Intestine Small	intestine
44	chr15:41744200-41751600	Strong transcription	Fetal Intestine Large	intestine
45	chr15:41744200-41767400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:41744400-41751600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:41744600-41752400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr15:41744600-41752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:41744800-41749800	Weak transcription	Lung	lung
50	chr15:41744800-41751600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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