Variant report

Variant	rs10776544
Chromosome Location	chr10:50386498-50386499
allele	A/G
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	chr10:50384577-50386705	IMR90	lung:	n/a	n/a
2	POLR2A	chr10:50384904-50386651	GM19193	blood:	n/a	n/a
3	MAX	chr10:50386411-50386943	K562	blood:	n/a	n/a
4	JUND	chr10:50386322-50386757	K562	blood:	n/a	n/a
5	MAX	chr10:50386442-50386634	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:50383633-50387422	K562	blood:	n/a	n/a
7	JUN	chr10:50384945-50387723	K562	blood:	n/a	chr10:50385735-50385743 chr10:50385644-50385654 chr10:50385645-50385653 chr10:50385195-50385203 chr10:50385981-50385992 chr10:50385641-50385652 chr10:50387566-50387578 chr10:50387116-50387127
8	POLR2A	chr10:50385107-50386672	GM12892	blood:	n/a	n/a
9	RCOR1	chr10:50385394-50387250	K562	blood:	n/a	n/a
10	CBX3	chr10:50386455-50386919	K562	blood:	n/a	n/a
11	POLR2A	chr10:50385066-50386702	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50372843..50375654-chr10:50384413..50387038,2	MCF-7	breast:
2	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:

Variant related genes	Relation type
C10orf128	TF binding region
ENSG00000236208	Chromatin interaction
ENSG00000204161	Chromatin interaction
ENSG00000177354	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10857438	0.87[ASN][1000 genomes]
rs11101006	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11101015	0.85[ASN][1000 genomes]
rs11101016	0.85[ASN][1000 genomes]
rs12570293	0.85[ASN][1000 genomes]
rs12768927	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17009325	0.88[ASN][1000 genomes]
rs17701363	0.98[ASN][1000 genomes]
rs1962336	0.93[ASW][hapmap];0.83[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2002332	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2377949	0.85[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2377994	0.85[ASN][1000 genomes]
rs2377995	0.88[ASN][1000 genomes]
rs2377996	0.88[ASN][1000 genomes]
rs2377997	0.88[ASN][1000 genomes]
rs55908723	0.98[ASN][1000 genomes]
rs61848458	0.98[ASN][1000 genomes]
rs6537507	0.81[ASW][hapmap];0.83[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs7082074	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs7094833	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7475519	0.85[ASN][1000 genomes]
rs7912402	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10776544	FRMPD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:50378000-50388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:50380400-50386600	Enhancers	Right Ventricle	heart
4	chr10:50381800-50394800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:50382200-50386600	Enhancers	Left Ventricle	heart
6	chr10:50382200-50390000	Enhancers	K562	blood
7	chr10:50383400-50386600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:50383400-50395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:50383800-50387200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:50384000-50386600	Enhancers	NHDF-Ad	bronchial
11	chr10:50384200-50386600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50384200-50386600	Enhancers	Lung	lung
13	chr10:50384200-50387000	Enhancers	Adipose Nuclei	Adipose
14	chr10:50384200-50387000	Enhancers	Brain Substantia Nigra	brain
15	chr10:50384200-50389600	Enhancers	Primary B cells from cord blood	blood
16	chr10:50384400-50386800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:50384400-50396000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:50384600-50386600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr10:50384600-50387200	Enhancers	Dnd41	blood
20	chr10:50384800-50386600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr10:50384800-50386600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:50384800-50387600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:50384800-50388600	Enhancers	Spleen	Spleen
24	chr10:50385000-50386600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:50385200-50386600	Enhancers	HSMMtube	muscle
26	chr10:50385200-50388200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:50385400-50386600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:50385400-50387400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr10:50385400-50391800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:50385600-50390000	Weak transcription	Fetal Lung	lung
31	chr10:50385800-50389200	Enhancers	GM12878-XiMat	blood
32	chr10:50386000-50386800	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:50386000-50387400	Weak transcription	Small Intestine	intestine
34	chr10:50386000-50388000	Weak transcription	Fetal Thymus	thymus
35	chr10:50386000-50388400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:50386000-50390800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:50386000-50394800	Weak transcription	Brain Anterior Caudate	brain
38	chr10:50386000-50395200	Weak transcription	Psoas Muscle	Psoas
39	chr10:50386200-50386600	Enhancers	Pancreas	Pancrea
40	chr10:50386200-50387800	Weak transcription	Colonic Mucosa	Colon
41	chr10:50386200-50388000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:50386200-50388000	Weak transcription	Right Atrium	heart
43	chr10:50386200-50389200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:50386200-50391600	Weak transcription	HUVEC	blood vessel
45	chr10:50386200-50392800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:50386200-50396000	Weak transcription	Placenta	Placenta
47	chr10:50386400-50386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:50386400-50387800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:50386400-50392400	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:50386400-50395200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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