Variant report

Variant	rs73604776
Chromosome Location	chr6:149885206-149885207
allele	C/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	JUND	chr6:149884544-149885229	SK-N-SH	brain:	n/a	chr6:149884865-149884876
2	GATA3	chr6:149884474-149885590	SK-N-SH	brain:	n/a	chr6:149885246-149885253
3	PBX3	chr6:149884593-149885560	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr6:149884475-149885207	SK-N-SH	brain:	n/a	n/a
5	EP300	chr6:149885071-149885499	SK-N-SH_RA	brain:	n/a	n/a
6	MAFK	chr6:149885169-149885446	HepG2	liver:	n/a	n/a
7	EP300	chr6:149885115-149885478	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr6:149884711-149885311	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr6:149885069-149885474	HEK293	kidney:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
10	TCF12	chr6:149884500-149885270	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr6:149884770-149885558	SK-N-SH	brain:	n/a	n/a
12	TCF7L2	chr6:149884581-149885463	Hela-S3	cervix:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
13	NFIC	chr6:149884514-149885351	SK-N-SH	brain:	n/a	n/a
14	EP300	chr6:149884528-149885210	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr6:149884547-149885570	SK-N-SH	brain:	n/a	chr6:149885246-149885253
16	TCF7L2	chr6:149885089-149885416	Hela-S3	cervix:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
17	FOS	chr6:149884631-149885280	MCF10A-Er-Src	breast:	n/a	chr6:149885249-149885260 chr6:149885246-149885258 chr6:149884814-149884825 chr6:149884865-149884876
18	TCF12	chr6:149884503-149885356	SK-N-SH	brain:	n/a	n/a
19	E2F4	chr6:149884882-149885309	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr6:149884490-149885271	SK-N-SH	brain:	n/a	chr6:149885249-149885260 chr6:149885246-149885258 chr6:149884865-149884876

No.	Distal block	Cell Line	Cell type
1	chr6:149865611..149871097-chr6:149883709..149888968,8	K562	blood:
2	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
3	chr6:149871886..149874097-chr6:149885143..149886769,2	K562	blood:
4	chr6:149863889..149870301-chr6:149880315..149888361,14	K562	blood:
5	chr6:149833219..149834722-chr6:149885011..149886863,2	K562	blood:
6	chr6:149883500..149885570-chr6:149968229..149969778,2	MCF-7	breast:
7	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
8	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
9	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
10	chr6:149884418..149886657-chr6:150140173..150142192,2	K562	blood:

Variant related genes	Relation type
GINM1	TF binding region
ENSG00000186625	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000131013	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11963941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087666	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35077558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35515786	1.00[AFR][1000 genomes]
rs56859590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57065071	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57925355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61666489	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6938702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602752	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602754	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604737	0.90[AFR][1000 genomes]
rs73604743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604784	1.00[AFR][1000 genomes]
rs73604790	1.00[AFR][1000 genomes]
rs73604795	1.00[AFR][1000 genomes]
rs73604799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606715	1.00[AFR][1000 genomes]
rs73606737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7771139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9689443	1.00[AFR][1000 genomes]
rs9766104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9767369	0.88[AFR][1000 genomes];1.00[AMR][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	nsv966665	chr6:149862756-149895103	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149884000-149886200	Enhancers	Hela-S3	cervix
2	chr6:149884200-149886200	Enhancers	NHLF	lung
3	chr6:149884400-149885400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:149884400-149885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:149884400-149885400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:149884400-149885600	Enhancers	NHDF-Ad	bronchial
7	chr6:149884400-149885600	Enhancers	Osteobl	bone
8	chr6:149884400-149885800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:149884400-149885800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:149884400-149886200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:149884400-149886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:149884400-149886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:149884400-149886200	Enhancers	HMEC	breast
14	chr6:149884400-149886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:149884400-149886600	Enhancers	HUVEC	blood vessel
16	chr6:149884600-149885600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:149884600-149885600	Enhancers	A549	lung
18	chr6:149884600-149885600	Enhancers	NH-A	brain
19	chr6:149884600-149886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:149884800-149885400	Enhancers	GM12878-XiMat	blood
21	chr6:149884800-149886200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:149884800-149886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:149884800-149886600	Enhancers	HSMM	muscle
24	chr6:149885200-149885600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:149885200-149885600	Enhancers	K562	blood
26	chr6:149885200-149886200	Enhancers	Dnd41	blood
27	chr6:149885200-149886200	Bivalent Enhancer	HepG2	liver
28	chr6:149885200-149886200	Flanking Active TSS	NHEK	skin

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