Variant report

Variant	rs11101081
Chromosome Location	chr10:50507362-50507363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr10:50506912-50507740	K562	blood:	n/a	n/a
2	POLR2A	chr10:50506647-50509010	K562	blood:	n/a	n/a
3	MEF2A	chr10:50506698-50507392	K562	blood:	n/a	chr10:50507146-50507157 chr10:50507139-50507160 chr10:50507143-50507158
4	HEY1	chr10:50506923-50509008	K562	blood:	n/a	n/a
5	ARID3A	chr10:50507010-50507590	K562	blood:	n/a	n/a
6	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
7	GTF2B	chr10:50507051-50507490	K562	blood:	n/a	n/a
8	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
9	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
10	HCFC1	chr10:50506971-50509100	K562	blood:	n/a	n/a
11	TBP	chr10:50506218-50507728	K562	blood:	n/a	n/a
12	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
13	EP300	chr10:50506285-50508997	K562	blood:	n/a	n/a
14	TBL1XR1	chr10:50506821-50509004	K562	blood:	n/a	n/a
15	POLR2A	chr10:50506948-50509008	K562	blood:	n/a	n/a
16	TAF1	chr10:50507040-50507574	K562	blood:	n/a	n/a
17	CUX1	chr10:50506966-50509165	K562	blood:	n/a	n/a
18	GTF2F1	chr10:50506825-50508897	K562	blood:	n/a	n/a
19	PML	chr10:50506688-50507497	K562	blood:	n/a	n/a
20	POLR2A	chr10:50506692-50508387	K562	blood:	n/a	n/a
21	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
22	POLR2A	chr10:50506790-50509104	K562	blood:	n/a	n/a
23	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
24	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
25	MYC	chr10:50506956-50509142	K562	blood:	n/a	n/a
26	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
27	HEY1	chr10:50506977-50508490	K562	blood:	n/a	n/a
28	E2F6	chr10:50507019-50508094	K562	blood:	n/a	n/a
29	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
30	MAFK	chr10:50507034-50508977	K562	blood:	n/a	n/a
31	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
32	POLR2A	chr10:50507003-50509021	K562	blood:	n/a	n/a
33	TAF1	chr10:50507019-50507686	K562	blood:	n/a	n/a
34	IRF1	chr10:50506989-50508998	K562	blood:	n/a	chr10:50508076-50508090
35	MYC	chr10:50506958-50509161	K562	blood:	n/a	n/a
36	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
37	HMGN3	chr10:50507130-50509019	K562	blood:	n/a	n/a
38	POLR2A	chr10:50506604-50509034	K562	blood:	n/a	n/a
39	JUND	chr10:50506718-50509266	K562	blood:	n/a	chr10:50507930-50507940
40	POLR2A	chr10:50506519-50509075	K562	blood:	n/a	n/a
41	EP300	chr10:50507055-50509765	SK-N-SH	brain:	n/a	n/a
42	EGR1	chr10:50507334-50507719	K562	blood:	n/a	n/a
43	RCOR1	chr10:50507129-50507835	K562	blood:	n/a	n/a
44	ELF1	chr10:50507037-50507936	K562	blood:	n/a	n/a
45	MAX	chr10:50506969-50508114	K562	blood:	n/a	n/a
46	POLR2A	chr10:50507044-50508964	K562	blood:	n/a	n/a
47	POLR2A	chr10:50506579-50509057	K562	blood:	n/a	n/a
48	CHD2	chr10:50507082-50508983	K562	blood:	n/a	n/a
49	MYC	chr10:50506692-50508975	K562	blood:	n/a	n/a
50	TAL1	chr10:50507077-50509125	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
3	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
4	chr10:50451424..50453022-chr10:50507349..50510137,2	K562	blood:
5	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
6	chr10:50374066..50375952-chr10:50506772..50508302,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAT-2	chr10:50507319-50507499	NONHSAT013303

No data

Variant related genes	Relation type
C10orf71-AS1	TF binding region
ENSG00000248682	Chromatin interaction
ENSG00000128805	Chromatin interaction
ENSG00000165633	Chromatin interaction
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10857466	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10857469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10857470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101083	0.81[GIH][hapmap];0.91[TSI][hapmap]
rs11101093	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101095	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101096	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11101099	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11101102	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101107	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101108	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12360386	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35647145	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61848573	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61848574	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61848597	0.83[AMR][1000 genomes];0.90[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	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
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11101081	RBP3	cis	parietal	SCAN
rs11101081	SLC18A3	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50500600-50507800	Weak transcription	Lung	lung
2	chr10:50501800-50507400	Weak transcription	Spleen	Spleen
3	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:50505000-50507400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:50505000-50507600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr10:50505800-50509600	Flanking Active TSS	K562	blood
11	chr10:50506000-50507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:50506000-50507400	Enhancers	Fetal Lung	lung
13	chr10:50506000-50507600	Bivalent Enhancer	Placenta	Placenta
14	chr10:50506000-50507800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
16	chr10:50506200-50507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:50506400-50507400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:50506400-50507800	Enhancers	Adipose Nuclei	Adipose
19	chr10:50506600-50507400	Active TSS	Right Atrium	heart
20	chr10:50506600-50508600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:50506600-50509200	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:50506600-50509200	Enhancers	Fetal Stomach	stomach
23	chr10:50506800-50507400	Active TSS	Left Ventricle	heart
24	chr10:50506800-50507400	Active TSS	Pancreas	Pancrea
25	chr10:50506800-50507400	Active TSS	Right Ventricle	heart
26	chr10:50506800-50507400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr10:50506800-50507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:50506800-50508000	Active TSS	Fetal Heart	heart
29	chr10:50506800-50508600	Active TSS	Psoas Muscle	Psoas
30	chr10:50506800-50509200	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:50507000-50507400	Active TSS	Stomach Smooth Muscle	stomach
32	chr10:50507000-50507400	Flanking Active TSS	HSMM	muscle
33	chr10:50507000-50509200	Enhancers	GM12878-XiMat	blood
34	chr10:50507200-50507400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr10:50507200-50507400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:50507200-50507400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr10:50507200-50507400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr10:50507200-50507600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:50507200-50507600	Enhancers	Ovary	ovary
40	chr10:50507200-50508000	Enhancers	Colonic Mucosa	Colon
41	chr10:50507200-50508000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr10:50507200-50509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr10:50507200-50509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:50507200-50511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:50507200-50511400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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