Variant report

Variant	rs45451992
Chromosome Location	chr7:99041416-99041417
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10251282	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	0.95[ASN][1000 genomes]
rs1045012	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	0.95[ASN][1000 genomes]
rs17161700	0.85[EUR][1000 genomes]
rs17161726	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365067	0.89[ASN][1000 genomes]
rs28377312	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs45441991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs57832867	0.85[EUR][1000 genomes]
rs59240302	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59672032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	0.94[ASN][1000 genomes]
rs6976017	0.89[ASN][1000 genomes]
rs6977165	0.89[ASN][1000 genomes]
rs73397447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403290	0.94[ASN][1000 genomes]
rs73405247	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73711280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	0.94[ASN][1000 genomes]
rs917152	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription 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 lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
2	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99038000-99041600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:99038000-99041600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:99038000-99042000	Weak transcription	Lung	lung
6	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
8	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
9	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
11	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
12	chr7:99038200-99042000	Weak transcription	Fetal Thymus	thymus
13	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
19	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:99038200-99042600	Weak transcription	Small Intestine	intestine
23	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
25	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
26	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
27	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
29	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:99038600-99041600	Weak transcription	HepG2	liver
34	chr7:99038600-99042000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:99038600-99042200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:99038600-99042200	Weak transcription	GM12878-XiMat	blood
37	chr7:99038600-99058000	Strong transcription	NHEK	skin
38	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:99038800-99043600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:99038800-99047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:99038800-99058000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:99039000-99042200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:99039000-99055000	Strong transcription	Placenta	Placenta
45	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
46	chr7:99039200-99041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:99039200-99041600	Weak transcription	Spleen	Spleen
48	chr7:99039200-99042200	Weak transcription	A549	lung
49	chr7:99039200-99042400	Weak transcription	Pancreas	Pancrea
50	chr7:99039200-99042400	Weak transcription	Right Ventricle	heart

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