Variant report

Variant	rs10437838
Chromosome Location	chr12:121211914-121211915
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:121211817-121212291	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121198595..121200409-chr12:121209397..121212163,2	MCF-7	breast:
2	chr12:121208540..121211022-chr12:121211135..121213895,3	K562	blood:
3	chr12:121211334..121215369-chr12:121217344..121221098,3	K562	blood:
4	chr12:121210691..121212247-chr12:121214029..121215560,2	K562	blood:
5	chr12:121203090..121205836-chr12:121209356..121211928,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000255946	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1039302	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10431387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10744754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap]
rs10774571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849782	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849783	0.84[EUR][1000 genomes]
rs10849785	0.92[MEX][hapmap]
rs10849786	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10849787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849789	0.92[MEX][hapmap]
rs10849790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849792	0.92[MEX][hapmap]
rs10849793	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10849800	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849805	0.86[CEU][hapmap]
rs10849808	0.92[MEX][hapmap]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849814	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11065266	0.93[EUR][1000 genomes]
rs11065272	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11065322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.86[YRI][hapmap]
rs11829904	0.81[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423697	0.81[EUR][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393725	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213569	1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.93[EUR][1000 genomes]
rs3213571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs4638383	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs471688	0.86[YRI][hapmap]
rs508595	0.80[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs56137011	0.81[EUR][1000 genomes]
rs593429	0.81[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.86[YRI][hapmap]
rs625228	0.81[LWK][hapmap];0.93[YRI][hapmap]
rs6489780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489781	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6489782	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6490303	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135147	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7135426	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7139145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs715319	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7300695	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73229114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7960784	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7977343	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
3	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:121197800-121212400	Strong transcription	Liver	Liver
5	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
7	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
8	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
10	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:121201000-121212000	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:121201000-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121201200-121217600	Strong transcription	Primary T cells from cord blood	blood
14	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
15	chr12:121204800-121212000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:121204800-121213800	Strong transcription	Fetal Intestine Large	intestine
17	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
18	chr12:121205600-121212600	Strong transcription	Placenta	Placenta
19	chr12:121205600-121213800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
22	chr12:121206400-121213400	Strong transcription	Fetal Intestine Small	intestine
23	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
24	chr12:121206600-121220400	Weak transcription	NH-A	brain
25	chr12:121206600-121220600	Weak transcription	NHLF	lung
26	chr12:121206800-121218600	Weak transcription	A549	lung
27	chr12:121206800-121218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:121206800-121219400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:121206800-121219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:121206800-121220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:121206800-121220600	Weak transcription	Hela-S3	cervix
32	chr12:121207000-121212200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:121207000-121213600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:121207000-121214000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:121207000-121218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:121207000-121220000	Weak transcription	K562	blood
37	chr12:121207000-121220200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
39	chr12:121207200-121212000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:121207200-121213800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:121207200-121214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:121207200-121216800	Weak transcription	HSMM	muscle
43	chr12:121207200-121218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:121207200-121218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:121207200-121218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:121207200-121219200	Weak transcription	Brain Germinal Matrix	brain
47	chr12:121207200-121219600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:121207200-121220400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:121207200-121220400	Weak transcription	HMEC	breast
50	chr12:121207200-121220400	Weak transcription	NHEK	skin

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