Variant report

Variant	rs7893657
Chromosome Location	chr10:98384456-98384457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:98384298-98385268	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:98373312..98375091-chr10:98382282..98385347,3	K562	blood:
2	chr10:98376679..98380080-chr10:98381155..98385346,4	MCF-7	breast:
3	chr10:98379605..98381672-chr10:98382611..98385350,2	K562	blood:

Variant related genes	Relation type
PIK3AP1	TF binding region
ENSG00000227032	TF binding region
ENSG00000202047	Chromatin interaction
ENSG00000227032	Chromatin interaction
ENSG00000155629	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10882831	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10882833	0.87[AFR][1000 genomes]
rs1469847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34715811	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4320890	0.85[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4344416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4489672	0.90[EUR][1000 genomes]
rs4917745	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4919042	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4919043	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60138313	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6584091	0.87[CEU][hapmap];0.88[MKK][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72818980	0.82[EUR][1000 genomes]
rs72818982	0.82[EUR][1000 genomes]
rs72818983	1.00[EUR][1000 genomes]
rs72818985	0.82[EUR][1000 genomes]
rs72818986	0.82[EUR][1000 genomes]
rs72818991	0.80[EUR][1000 genomes]
rs7896097	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7900070	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7905024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7893657	ENTPD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:98353000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr10:98354600-98388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:98360400-98392800	Weak transcription	Thymus	Thymus
8	chr10:98362200-98389200	Strong transcription	Primary B cells from cord blood	blood
9	chr10:98363800-98392600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:98366000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:98366600-98392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:98371000-98388600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:98371000-98389000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:98372200-98388600	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:98374400-98390200	Weak transcription	Small Intestine	intestine
17	chr10:98375800-98390200	Weak transcription	Adipose Nuclei	Adipose
18	chr10:98377400-98392600	Weak transcription	Esophagus	oesophagus
19	chr10:98378200-98392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:98378800-98389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:98378800-98392400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:98378800-98392600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:98379000-98396200	Weak transcription	HepG2	liver
24	chr10:98379200-98387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:98379600-98392600	Strong transcription	Liver	Liver
26	chr10:98379800-98385400	Strong transcription	Placenta	Placenta
27	chr10:98379800-98392200	Weak transcription	Fetal Intestine Small	intestine
28	chr10:98380000-98392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:98380200-98392400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:98380400-98392600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:98380400-98392600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:98381000-98385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:98381200-98384800	Weak transcription	Right Ventricle	heart
34	chr10:98381600-98408200	Weak transcription	Lung	lung
35	chr10:98381800-98393000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:98382200-98384800	Weak transcription	Brain Substantia Nigra	brain
37	chr10:98383400-98387200	Strong transcription	Spleen	Spleen
38	chr10:98383400-98388600	Strong transcription	GM12878-XiMat	blood
39	chr10:98384200-98385200	Enhancers	Gastric	stomach
40	chr10:98384200-98386400	Weak transcription	K562	blood
41	chr10:98384400-98384800	Weak transcription	Stomach Mucosa	stomach
42	chr10:98384400-98385200	Strong transcription	Pancreas	Pancrea

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