Variant report

Variant	rs10996310
Chromosome Location	chr10:53006196-53006197
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	GATA3	chr10:53005733-53006728	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:53005979-53006221	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr10:53005814-53006540	SK-N-SH	brain:	n/a	n/a
4	EP300	chr10:53006003-53006347	SK-N-SH_RA	brain:	n/a	chr10:53006023-53006037
5	GATA2	chr10:53005821-53006537	SH-SY5Y	brain:	n/a	n/a
6	EP300	chr10:53005992-53006328	SK-N-SH_RA	brain:	n/a	chr10:53006023-53006037
7	NFIC	chr10:53005800-53006506	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr10:53005931-53006726	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr10:53005922-53006304	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr10:53005945-53006233	SK-N-SH_RA	brain:	n/a	n/a
11	GATA3	chr10:53005868-53006414	SH-SY5Y	brain:	n/a	n/a
12	TCF12	chr10:53005797-53006503	SK-N-SH	brain:	n/a	n/a
13	EP300	chr10:53005801-53007013	SK-N-SH	brain:	n/a	chr10:53006368-53006382 chr10:53006367-53006381 chr10:53006370-53006384 chr10:53006023-53006037
14	RAD21	chr10:53006025-53006274	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000231132	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490973	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10490974	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10490975	0.98[EUR][1000 genomes]
rs10996313	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996314	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996317	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996318	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996319	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996323	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996325	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996327	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996328	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996331	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10996357	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996361	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996376	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996377	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996389	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996390	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996392	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10996397	0.98[EUR][1000 genomes]
rs10996438	0.98[EUR][1000 genomes]
rs10996449	0.98[EUR][1000 genomes]
rs10996452	0.98[EUR][1000 genomes]
rs10996455	0.98[EUR][1000 genomes]
rs10996458	0.94[EUR][1000 genomes]
rs12240684	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12245444	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12247775	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12251510	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253079	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12253122	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254957	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12259761	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12262817	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12264019	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16915897	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849755	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61849756	0.98[EUR][1000 genomes]
rs61852060	0.94[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	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	esv2757383	chr10:52995974-53015583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	esv2759750	chr10:52995974-53015583	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52992000-53006200	Weak transcription	Aorta	Aorta
2	chr10:52992200-53009600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:53003200-53007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:53003400-53006600	Enhancers	Fetal Heart	heart
5	chr10:53003600-53006600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:53003600-53010400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:53004000-53006800	Enhancers	HUVEC	blood vessel
8	chr10:53004200-53006200	Enhancers	Osteobl	bone
9	chr10:53004400-53006200	Enhancers	NH-A	brain
10	chr10:53004400-53006600	Enhancers	Primary hematopoietic stem cells	blood
11	chr10:53004600-53006200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:53004600-53008000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:53004800-53006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:53004800-53006200	Enhancers	Adipose Nuclei	Adipose
15	chr10:53004800-53006800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:53004800-53007000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:53004800-53007000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr10:53004800-53007200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:53004800-53007800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:53004800-53007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:53004800-53008000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:53004800-53008000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr10:53004800-53010600	Weak transcription	Psoas Muscle	Psoas
24	chr10:53005000-53006600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:53005000-53007400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:53005000-53009800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:53005200-53006400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:53005200-53009800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:53005400-53006600	Enhancers	Hela-S3	cervix
30	chr10:53005400-53010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:53005600-53006200	Enhancers	Small Intestine	intestine
32	chr10:53005600-53006600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:53005600-53006800	Enhancers	Stomach Mucosa	stomach
34	chr10:53005800-53006200	Enhancers	Colon Smooth Muscle	Colon
35	chr10:53005800-53006400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:53005800-53007000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:53005800-53009800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:53006000-53009400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:53006000-53010200	Weak transcription	Fetal Muscle Leg	muscle

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