Variant report

Variant	rs7307735
Chromosome Location	chr12:123087442-123087443
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	CEBPB	chr12:123087286-123087520	A549	lung:	n/a	n/a
2	CEBPB	chr12:123087307-123087456	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123081153..123083342-chr12:123085187..123087941,2	K562	blood:

Variant related genes	Relation type
KNTC1	TF binding region
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10734924	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10744211	0.88[JPT][hapmap]
rs10744275	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10773152	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10773208	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs10773302	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10846921	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs10846978	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs10847179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10847242	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10847415	0.81[CEU][hapmap]
rs10998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap]
rs11058226	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs11058402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1392236	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473553	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs1973463	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2062506	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2173628	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342082	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3803005	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4319547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758643	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4758648	0.85[CHB][hapmap]
rs4758666	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs61954972	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61954973	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6416298	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6489071	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489158	0.96[ASN][1000 genomes]
rs6489159	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7295105	0.99[ASN][1000 genomes]
rs7295397	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301515	0.84[TSI][hapmap]
rs7307233	0.85[CEU][hapmap];0.99[ASN][1000 genomes]
rs7309390	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7314638	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs7316149	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316734	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954006	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.99[ASN][1000 genomes]
rs7955203	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7964138	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7966094	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972728	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9705654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9988963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
11	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:123015600-123115000	Strong transcription	Dnd41	blood
13	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
14	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
20	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:123067200-123094200	Weak transcription	Fetal Kidney	kidney
28	chr12:123067400-123095600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:123067600-123090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:123067800-123089200	Weak transcription	Placenta	Placenta
31	chr12:123068000-123095400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:123069600-123099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:123070600-123089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:123071200-123095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:123072600-123089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:123072600-123095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:123072800-123087600	Weak transcription	Left Ventricle	heart
38	chr12:123076000-123094000	Weak transcription	Osteobl	bone
39	chr12:123076200-123089400	Weak transcription	NHLF	lung
40	chr12:123076400-123089200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:123076400-123089200	Weak transcription	HSMM	muscle
42	chr12:123076400-123089400	Weak transcription	Liver	Liver
43	chr12:123076400-123089600	Weak transcription	Fetal Brain Female	brain
44	chr12:123076600-123094200	Weak transcription	Primary B cells from cord blood	blood
45	chr12:123076600-123094200	Weak transcription	Adipose Nuclei	Adipose
46	chr12:123076600-123097200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:123077000-123089400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:123077000-123106400	Weak transcription	Right Ventricle	heart
49	chr12:123077400-123094000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links