Variant report

Variant	rs10915936
Chromosome Location	chr1:226296603-226296604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226185830..226192188-chr1:226295102..226300995,14	K562	blood:
2	chr1:226268789..226272906-chr1:226295898..226299182,7	MCF-7	breast:
3	chr1:226184406..226191885-chr1:226296440..226300646,16	K562	blood:
4	chr1:226286961..226289894-chr1:226295202..226296764,2	MCF-7	breast:
5	chr1:226252953..226257459-chr1:226295699..226299600,6	K562	blood:
6	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
7	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
8	chr1:226280725..226282904-chr1:226296101..226298427,2	MCF-7	breast:
9	chr1:226278316..226280585-chr1:226296182..226299761,5	K562	blood:
10	chr1:226272543..226275486-chr1:226296577..226298150,2	K562	blood:
11	chr1:226278163..226280585-chr1:226296182..226298785,3	K562	blood:
12	chr1:226296249..226298801-chr1:226372928..226374565,3	MCF-7	breast:
13	chr1:226276150..226278572-chr1:226296104..226299009,3	MCF-7	breast:
14	chr1:226203798..226206623-chr1:226296262..226299570,3	K562	blood:
15	chr1:226296024..226297911-chr1:226318078..226320711,2	MCF-7	breast:
16	chr1:226292542..226298942-chr1:226306858..226311185,7	K562	blood:
17	chr1:226283335..226286011-chr1:226296235..226298970,2	K562	blood:
18	chr1:226261864..226264006-chr1:226295476..226297879,2	MCF-7	breast:
19	chr1:226295550..226298881-chr1:226372449..226374303,3	K562	blood:
20	chr1:226294173..226296848-chr1:226297269..226298871,2	MCF-7	breast:
21	chr1:226268761..226273887-chr1:226296275..226301554,11	MCF-7	breast:
22	chr1:226290752..226294518-chr1:226294723..226300130,8	K562	blood:
23	chr1:226247341..226256471-chr1:226296212..226302215,23	K562	blood:
24	chr1:226285884..226288013-chr1:226296594..226298367,3	K562	blood:
25	chr1:226248728..226252252-chr1:226295575..226300283,12	MCF-7	breast:
26	chr1:226246090..226252706-chr1:226295668..226300269,21	K562	blood:
27	chr1:226248153..226256692-chr1:226295520..226301397,23	MCF-7	breast:
28	chr1:226259247..226261395-chr1:226295322..226298055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10915934	0.83[EUR][1000 genomes]
rs11577282	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12117683	0.81[EUR][1000 genomes]
rs12117819	0.81[EUR][1000 genomes]
rs12121071	0.88[EUR][1000 genomes]
rs1355391	0.83[EUR][1000 genomes]
rs6693755	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515023	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552463	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10915936	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx
rs10915936	H3F3A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
2	chr1:226289000-226297000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:226289000-226297000	Weak transcription	HUVEC	blood vessel
4	chr1:226289200-226297000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:226292600-226296800	Weak transcription	Lung	lung
6	chr1:226293000-226296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:226293000-226297200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:226293000-226297400	Weak transcription	Spleen	Spleen
9	chr1:226295000-226297000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:226295000-226297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:226295000-226297000	Enhancers	Primary B cells from cord blood	blood
12	chr1:226295000-226297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:226295000-226297200	Enhancers	K562	blood
14	chr1:226295200-226296800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:226295200-226297000	Enhancers	Esophagus	oesophagus
16	chr1:226295200-226297200	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:226295400-226297200	Weak transcription	Gastric	stomach
18	chr1:226295600-226296800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:226295600-226296800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:226295600-226296800	Weak transcription	GM12878-XiMat	blood
21	chr1:226295800-226296800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:226295800-226297000	Weak transcription	Fetal Lung	lung
23	chr1:226295800-226297200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:226296000-226296800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:226296000-226297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226296000-226297200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:226296200-226296800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:226296200-226296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:226296200-226297000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:226296200-226297000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:226296200-226297000	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:226296200-226297000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:226296400-226296800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:226296400-226296800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:226296400-226296800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:226296400-226297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:226296400-226297000	Enhancers	Right Atrium	heart
38	chr1:226296400-226297000	Enhancers	Stomach Mucosa	stomach
39	chr1:226296400-226297200	Enhancers	Fetal Kidney	kidney
40	chr1:226296400-226297200	Enhancers	Placenta	Placenta
41	chr1:226296400-226297200	Enhancers	Left Ventricle	heart
42	chr1:226296600-226296800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:226296600-226296800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:226296600-226296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:226296600-226296800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:226296600-226296800	Enhancers	Brain Angular Gyrus	brain
47	chr1:226296600-226296800	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:226296600-226296800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:226296600-226296800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:226296600-226296800	Enhancers	Skeletal Muscle Male	skeletal muscle

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