Variant report

Variant	rs2514328
Chromosome Location	chr8:99252115-99252116
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	chr8:99252000-99252134	A549	lung:	n/a	chr8:99252071-99252082
2	CEBPB	chr8:99251980-99252158	H1-hESC	embryonic stem cell:	n/a	chr8:99252071-99252082
3	CEBPB	chr8:99251904-99252240	IMR90	lung:	n/a	chr8:99252071-99252082
4	STAT3	chr8:99252049-99252495	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr8:99251933-99252192	K562	blood:	n/a	chr8:99252071-99252082
6	CEBPB	chr8:99251978-99252463	HepG2	liver:	n/a	chr8:99252401-99252414 chr8:99252071-99252082

No.	Distal block	Cell Line	Cell type
1	chr8:99249927..99252814-chr8:99350531..99353250,2	MCF-7	breast:
2	chr2:201753010..201755430-chr8:99251184..99254324,3	MCF-7	breast:
3	chr8:99252007..99254698-chr8:99262600..99264697,2	MCF-7	breast:
4	chr8:99251175..99252903-chr8:99308819..99310707,2	MCF-7	breast:
5	chr8:99250843..99252908-chr8:99305978..99307837,2	MCF-7	breast:
6	chr8:99247388..99250168-chr8:99250912..99253413,3	MCF-7	breast:
7	chr8:99250956..99253382-chr8:99305181..99308171,3	MCF-7	breast:
8	chr8:99241307..99248169-chr8:99249290..99255267,8	MCF-7	breast:

Variant related genes	Relation type
NIPAL2	TF binding region
ENSG00000104361	Chromatin interaction
ENSG00000196290	Chromatin interaction
ENSG00000240344	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10087941	0.88[ASN][1000 genomes]
rs1319283	0.88[CEU][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1901365	0.96[ASN][1000 genomes]
rs2443562	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2443566	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443567	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443568	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2443569	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2514319	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2514323	0.88[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2514325	0.88[ASN][1000 genomes]
rs2514329	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2923786	0.87[ASN][1000 genomes]
rs4454248	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4454250	1.00[ASN][1000 genomes]
rs7005080	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs896421	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];1.00[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:99226200-99267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99229400-99267000	Weak transcription	Left Ventricle	heart
6	chr8:99235400-99268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:99239400-99268600	Weak transcription	Aorta	Aorta
8	chr8:99239800-99252600	Weak transcription	Esophagus	oesophagus
9	chr8:99240400-99259400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:99240400-99259400	Weak transcription	Pancreas	Pancrea
11	chr8:99240400-99264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:99240400-99266200	Weak transcription	Fetal Stomach	stomach
13	chr8:99240600-99267000	Weak transcription	Gastric	stomach
14	chr8:99240600-99294200	Weak transcription	Ovary	ovary
15	chr8:99240800-99252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:99240800-99259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:99241000-99259200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:99241000-99259200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:99241000-99269400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:99242800-99255200	Weak transcription	HSMM	muscle
21	chr8:99243800-99252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:99244000-99259400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:99248600-99259600	Weak transcription	Psoas Muscle	Psoas
24	chr8:99249000-99252600	Weak transcription	Right Ventricle	heart
25	chr8:99249000-99256600	Weak transcription	HSMMtube	muscle
26	chr8:99249000-99267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:99249200-99259400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:99249400-99259400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:99250000-99259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:99250200-99257400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:99250200-99257400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:99250200-99257800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:99250400-99255200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:99251200-99253000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:99251200-99253000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:99251200-99253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:99251200-99253200	Enhancers	Fetal Lung	lung
38	chr8:99251400-99253400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:99251600-99253000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:99251600-99253400	Enhancers	HMEC	breast
41	chr8:99251800-99253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:99251800-99253200	Enhancers	NHDF-Ad	bronchial
43	chr8:99251800-99253200	Enhancers	Osteobl	bone
44	chr8:99251800-99255000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:99252000-99253200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:99252000-99253200	Enhancers	NHEK	skin

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