Variant report

Variant	rs12550783
Chromosome Location	chr8:99643487-99643488
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	chr8:99643424-99643784	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99642306..99644059-chr8:99645898..99647563,2	K562	blood:
2	chr8:99642735..99645306-chr8:99645506..99647439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254112	TF binding region
ENSG00000254112	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10096329	0.81[JPT][hapmap]
rs10447977	0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes]
rs10755896	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955178	0.82[JPT][hapmap]
rs10955186	1.00[ASW][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10955187	1.00[ASW][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10955188	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10955189	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10955190	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774463	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775055	0.81[AMR][1000 genomes]
rs11778767	0.82[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs11780292	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11780369	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11780500	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs11785245	0.82[JPT][hapmap]
rs12114834	0.83[MEX][hapmap];0.88[TSI][hapmap]
rs12541317	0.88[YRI][hapmap]
rs12542069	1.00[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12542649	0.91[ASN][1000 genomes]
rs12542758	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12547297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549803	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12550012	0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12675964	0.84[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12677183	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12679268	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679734	0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs12680195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680490	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680602	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13257475	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs13258214	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13269932	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13271844	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13275372	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275915	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13279438	0.81[AMR][1000 genomes]
rs16897076	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2515214	0.95[MEX][hapmap];0.93[TSI][hapmap]
rs2515216	0.93[TSI][hapmap];0.88[YRI][hapmap]
rs34114299	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34281206	0.81[AMR][1000 genomes]
rs34366206	0.82[CHB][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap]
rs34477118	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34855977	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35447893	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35536167	0.81[AMR][1000 genomes]
rs35798019	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs4131873	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4255105	0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4279561	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4292660	0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4413739	0.83[YRI][hapmap]
rs4440607	0.81[AMR][1000 genomes]
rs4509292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517094	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4541872	0.86[ASN][1000 genomes]
rs4549741	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4562286	0.84[ASW][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs4612309	0.92[ASN][1000 genomes]
rs4734410	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735568	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735570	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735571	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735574	0.82[CHB][hapmap];0.93[CHD][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes]
rs57034072	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62532565	0.86[ASN][1000 genomes]
rs62535381	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62535382	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62535383	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62535404	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62535408	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62535410	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62535412	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6651182	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988087	0.82[JPT][hapmap];0.86[TSI][hapmap]
rs6992925	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7016626	0.83[LWK][hapmap];0.94[YRI][hapmap]
rs72666669	0.88[ASN][1000 genomes]
rs7816638	0.81[ASN][1000 genomes]
rs7818010	0.83[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7818828	0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7838239	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7845271	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs9656842	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99621800-99651400	Weak transcription	Left Ventricle	heart
2	chr8:99621800-99663000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:99625600-99645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99630000-99662600	Weak transcription	Pancreas	Pancrea
5	chr8:99631800-99645400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:99632200-99646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:99632200-99651400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:99633400-99652000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:99633800-99650800	Weak transcription	Right Ventricle	heart
10	chr8:99634400-99658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:99635400-99651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:99636200-99649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:99636200-99654000	Weak transcription	Lung	lung
14	chr8:99636200-99662600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
16	chr8:99636400-99643800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:99636400-99647600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:99636400-99659200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:99636600-99643600	Weak transcription	Liver	Liver
20	chr8:99636600-99645400	Weak transcription	Adipose Nuclei	Adipose
21	chr8:99636600-99645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:99636600-99650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:99636600-99651800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:99636600-99662800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:99636800-99646400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:99637000-99647000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:99637200-99650200	Weak transcription	Placenta	Placenta
28	chr8:99637400-99656800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:99637800-99645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:99638000-99648200	Weak transcription	HepG2	liver
31	chr8:99638200-99652200	Weak transcription	Psoas Muscle	Psoas
32	chr8:99638200-99655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:99638200-99671200	Weak transcription	GM12878-XiMat	blood
34	chr8:99638600-99649600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:99639000-99647000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:99640600-99647200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:99641000-99651600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:99641200-99645000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:99641200-99646000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:99641200-99656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:99643200-99643800	Enhancers	Fetal Heart	heart
42	chr8:99643200-99644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:99643200-99644000	Enhancers	NHLF	lung
44	chr8:99643200-99644200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:99643200-99645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:99643200-99647800	Enhancers	Fetal Lung	lung
47	chr8:99643400-99643800	Enhancers	Ovary	ovary
48	chr8:99643400-99643800	Strong transcription	NHEK	skin
49	chr8:99643400-99644000	Enhancers	Osteobl	bone
50	chr8:99643400-99644200	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links