Variant report

Variant	rs55942267
Chromosome Location	chr7:99062698-99062699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99062506-99062771	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99062208-99062979	K562	blood:	n/a	n/a
3	NR2F2	chr7:99062149-99064445	K562	blood:	n/a	n/a
4	HEY1	chr7:99062217-99064102	K562	blood:	n/a	n/a
5	POLR2A	chr7:99062009-99064593	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99062243..99066385-chr7:99154728..99156714,5	K562	blood:
2	chr7:99060187..99063147-chr7:99085147..99088743,3	K562	blood:
3	chr7:99061426..99063695-chr7:99100642..99102156,2	K562	blood:
4	chr7:99061566..99064955-chr7:99096123..99100968,5	MCF-7	breast:
5	chr7:99062320..99065185-chr7:99213079..99214681,2	K562	blood:
6	chr17:59932235..59934023-chr7:99061650..99063719,2	MCF-7	breast:
7	chr7:99062282..99063948-chr7:99101006..99103756,2	MCF-7	breast:
8	chr7:99062287..99065237-chr7:99068917..99072408,9	MCF-7	breast:
9	chr7:98987157..98988975-chr7:99062223..99064769,2	MCF-7	breast:
10	chr7:99060444..99064436-chr7:99153650..99156512,4	K562	blood:
11	chr7:99005495..99008019-chr7:99062000..99063927,3	MCF-7	breast:
12	chr7:99061682..99064704-chr7:99696557..99699487,3	K562	blood:
13	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
14	chr7:99062254..99063852-chr7:100026479..100028012,2	K562	blood:
15	chr7:99004598..99006577-chr7:99061839..99063802,3	MCF-7	breast:
16	chr7:99004357..99007369-chr7:99061400..99065046,4	K562	blood:
17	chr7:99062251..99065366-chr7:99100921..99104362,4	MCF-7	breast:
18	chr7:99055033..99067556-chr7:99095016..99105645,21	K562	blood:
19	chr7:99062320..99064232-chr7:99213181..99214939,2	K562	blood:
20	chr7:99035887..99038153-chr7:99062281..99064908,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATP5J2	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000196652	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:67)

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	0.89[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	0.95[ASN][1000 genomes]
rs17161700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17161726	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365067	0.89[ASN][1000 genomes]
rs28377312	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41258334	0.89[ASN][1000 genomes]
rs45441991	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45593341	0.83[ASN][1000 genomes]
rs55830753	0.83[ASN][1000 genomes]
rs55927283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56167514	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57367781	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57830676	0.83[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59240302	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	0.89[AMR][1000 genomes];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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403286	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403290	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73405247	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73711280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7805661	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7806754	0.83[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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99046600-99062800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:99057000-99062800	Weak transcription	HSMMtube	muscle
3	chr7:99057400-99063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:99058400-99063000	Weak transcription	Ovary	ovary
5	chr7:99059000-99062800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:99059000-99063000	Weak transcription	Aorta	Aorta
7	chr7:99059400-99062800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:99060400-99062800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:99060400-99063000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:99060400-99063000	Enhancers	Gastric	stomach
11	chr7:99060600-99062800	Genic enhancers	Fetal Muscle Leg	muscle
12	chr7:99061600-99062800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:99061600-99062800	Enhancers	Brain Hippocampus Middle	brain
14	chr7:99061600-99062800	Genic enhancers	Fetal Stomach	stomach
15	chr7:99061600-99063000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:99061600-99063000	Enhancers	Pancreas	Pancrea
17	chr7:99061600-99063000	Enhancers	Spleen	Spleen
18	chr7:99061800-99062800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:99061800-99062800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:99061800-99062800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:99061800-99062800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:99061800-99062800	Enhancers	Fetal Heart	heart
23	chr7:99061800-99062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:99061800-99062800	Weak transcription	HMEC	breast
25	chr7:99061800-99063000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:99062000-99062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:99062000-99062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:99062000-99062800	Enhancers	Primary B cells from cord blood	blood
29	chr7:99062000-99062800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:99062000-99062800	Enhancers	Liver	Liver
31	chr7:99062000-99062800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:99062000-99062800	Enhancers	Placenta	Placenta
33	chr7:99062000-99062800	Weak transcription	Thymus	Thymus
34	chr7:99062000-99062800	Weak transcription	HSMM	muscle
35	chr7:99062000-99062800	Weak transcription	NH-A	brain
36	chr7:99062000-99062800	Weak transcription	NHDF-Ad	bronchial
37	chr7:99062000-99063000	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:99062000-99063000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:99062000-99063000	Active TSS	HepG2	liver
40	chr7:99062000-99063400	Flanking Active TSS	Dnd41	blood
41	chr7:99062000-99064000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:99062200-99062800	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:99062200-99062800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:99062200-99062800	Enhancers	Brain Anterior Caudate	brain
45	chr7:99062200-99062800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:99062200-99062800	Enhancers	Fetal Brain Male	brain
47	chr7:99062200-99062800	Active TSS	GM12878-XiMat	blood
48	chr7:99062200-99062800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:99062200-99063400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:99062200-99063400	Flanking Active TSS	Hela-S3	cervix

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