Variant report

Variant	rs10898915
Chromosome Location	chr11:72998687-72998688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:72998594-72998802	K562	blood:	n/a	n/a
2	MAZ	chr11:72998561-72998765	K562	blood:	n/a	n/a
3	CTCF	chr11:72998600-72998750	BE2_C	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72996918..72999897-chr11:73019036..73021814,2	MCF-7	breast:
2	chr11:72463586..72465161-chr11:72998103..73000277,2	MCF-7	breast:
3	chr11:72996898..72998697-chr11:73022520..73024095,2	MCF-7	breast:
4	chr11:72896543..72900928-chr11:72997023..72999571,3	MCF-7	breast:
5	chr11:72994379..72997208-chr11:72997669..73000273,2	K562	blood:
6	chr11:72993607..72995871-chr11:72997923..72999784,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000257038	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10898913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898914	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235707	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363628	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12790863	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12794405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67897720	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7106903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10898915	PAAF1	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:72986200-72999800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:72993600-72998800	Weak transcription	GM12878-XiMat	blood
4	chr11:72994400-72998800	Enhancers	Spleen	Spleen
5	chr11:72994400-72999000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:72995000-72999600	Weak transcription	NHEK	skin
7	chr11:72995000-72999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:72995200-72999400	Weak transcription	HMEC	breast
9	chr11:72995200-72999600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:72995400-72999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:72995400-72999600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:72995400-72999800	Weak transcription	Esophagus	oesophagus
13	chr11:72995600-72999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:72995600-72999800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:72996400-73001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
17	chr11:72997200-73001000	Genic enhancers	Fetal Intestine Small	intestine
18	chr11:72997400-72999800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:72997600-72999400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:72997600-73000000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:72997600-73000200	Enhancers	K562	blood
22	chr11:72997800-72999800	Enhancers	A549	lung
23	chr11:72997800-73000200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:72997800-73000800	Enhancers	Lung	lung
25	chr11:72998000-73000000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:72998000-73000200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:72998200-72999200	Genic enhancers	Placenta	Placenta
28	chr11:72998200-72999600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72998200-73000200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:72998200-73000200	Enhancers	Fetal Muscle Leg	muscle
31	chr11:72998200-73001000	Enhancers	Fetal Heart	heart
32	chr11:72998200-73001000	Enhancers	Left Ventricle	heart
33	chr11:72998400-72999000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:72998400-72999000	Enhancers	Brain Germinal Matrix	brain
35	chr11:72998400-72999200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:72998400-72999800	Enhancers	Adipose Nuclei	Adipose
37	chr11:72998400-72999800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:72998400-73000200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:72998400-73000200	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:72998400-73000200	Enhancers	Right Atrium	heart
41	chr11:72998400-73001200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:72998600-72998800	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr11:72998600-72999000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:72998600-72999000	Enhancers	Brain Anterior Caudate	brain
46	chr11:72998600-72999000	Enhancers	Colonic Mucosa	Colon
47	chr11:72998600-72999000	Enhancers	Pancreas	Pancrea
48	chr11:72998600-72999200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:72998600-72999600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:72998600-72999600	Bivalent Enhancer	HepG2	liver

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