Variant report

Variant	rs917152
Chromosome Location	chr7:99004497-99004498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99003969-99007015	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:99004089-99004665	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr7:99004274-99004525	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:99004006-99004508	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:99004132-99004514	K562	blood:	n/a	n/a
6	HEY1	chr7:99004103-99004680	K562	blood:	n/a	n/a
7	POLR2A	chr7:99004145-99004571	GM12891	blood:	n/a	n/a
8	JUND	chr7:99003803-99007899	SK-N-SH	brain:	n/a	chr7:99007393-99007402 chr7:99005830-99005840 chr7:99007390-99007399 chr7:99005830-99005840 chr7:99005831-99005839 chr7:99005830-99005840 chr7:99005830-99005840 chr7:99007391-99007400
9	POLR2A	chr7:99003742-99007162	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:99004254-99004580	K562	blood:	n/a	n/a
11	POLR2A	chr7:99004127-99004805	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:99003970-99004572	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:99004486-99004696	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:99004226-99004527	Raji	blood:	n/a	n/a
15	POLR2A	chr7:99004240-99004630	K562	blood:	n/a	n/a
16	POLR2A	chr7:99004222-99004729	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:99004102-99004674	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr7:99004150-99004702	K562	blood:	n/a	n/a
19	MXI1	chr7:99003886-99008004	SK-N-SH	brain:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
20	POLR2A	chr7:99004359-99004927	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:99003980-99007925	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:99004045-99004679	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:99004075-99004565	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
2	chr7:99004301..99006264-chr7:99095120..99098080,2	MCF-7	breast:
3	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
4	chr7:98959323..98961085-chr7:99003271..99005173,2	K562	blood:
5	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
6	chr7:98963718..98966584-chr7:99003795..99005637,2	MCF-7	breast:
7	chr7:99004357..99007369-chr7:99061400..99065046,4	K562	blood:
8	chr7:99004290..99006114-chr7:99025633..99027496,2	K562	blood:
9	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
10	chr7:98988826..98993566-chr7:99002963..99006762,7	MCF-7	breast:
11	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
12	chr7:99004079..99005950-chr7:99029849..99032633,2	MCF-7	breast:
13	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
14	chr7:98861668..98864470-chr7:99003441..99006106,2	K562	blood:
15	chr7:99004495..99006339-chr7:99697031..99698874,2	K562	blood:

No data

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000241468	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000002079	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000160908	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10251282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1045012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734	0.89[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17161700	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17161726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2293256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41385645	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs45441991	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.94[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59240302	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651108	0.84[MEX][hapmap]
rs6955490	1.00[JPT][hapmap]
rs6974831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs73397447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.94[ASN][1000 genomes]
rs73403290	0.94[ASN][1000 genomes]
rs73405247	0.94[ASN][1000 genomes]
rs73711280	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[ASN][1000 genomes]
rs952319	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98991600-99005200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99001000-99004600	Weak transcription	Fetal Kidney	kidney
3	chr7:99001000-99005200	Weak transcription	Fetal Brain Male	brain
4	chr7:99001800-99004600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99002400-99004800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:99002400-99005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:99002800-99004600	Enhancers	Colon Smooth Muscle	Colon
8	chr7:99002800-99005000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:99002800-99005000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:99002800-99005000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:99002800-99005000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:99002800-99005200	Weak transcription	Esophagus	oesophagus
13	chr7:99003000-99004800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:99003000-99005000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:99003000-99005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:99003200-99004800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:99003200-99005200	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:99003400-99004800	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:99003400-99005000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:99003400-99005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:99003400-99005000	Weak transcription	Right Atrium	heart
22	chr7:99003400-99005000	Enhancers	Stomach Mucosa	stomach
23	chr7:99003400-99005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99003400-99005200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:99003400-99005200	Enhancers	Pancreas	Pancrea
26	chr7:99003600-99004800	Enhancers	Liver	Liver
27	chr7:99003800-99004800	Enhancers	Brain Hippocampus Middle	brain
28	chr7:99003800-99005000	Enhancers	Right Ventricle	heart
29	chr7:99003800-99005200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:99003800-99005200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:99003800-99005400	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:99004000-99004600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:99004000-99004600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:99004000-99004600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:99004000-99004800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:99004000-99004800	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:99004000-99004800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:99004000-99004800	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:99004000-99005000	Enhancers	Brain Angular Gyrus	brain
40	chr7:99004000-99005200	Enhancers	Fetal Lung	lung
41	chr7:99004000-99005200	Enhancers	Small Intestine	intestine
42	chr7:99004000-99005200	Flanking Active TSS	A549	lung
43	chr7:99004000-99005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:99004000-99005400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr7:99004000-99005600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:99004200-99004600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:99004200-99004600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:99004200-99004600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:99004200-99004600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:99004200-99004600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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