Variant report

Variant	rs17155705
Chromosome Location	chr7:27775705-27775706
allele	A/C
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	POLR2A	chr7:27775634-27775705	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27773133..27776591-chr7:27778404..27780614,3	MCF-7	breast:

Variant related genes	Relation type
TAX1BP1	TF binding region
ENSG00000229893	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10229483	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12671723	0.81[CEU][hapmap]
rs12674175	1.00[CEU][hapmap]
rs12700831	0.81[CEU][hapmap]
rs12700836	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13247833	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524527	0.81[CEU][hapmap]
rs17155465	0.89[CEU][hapmap]
rs17155836	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17155900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17685087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893292	0.81[CEU][hapmap]
rs34526836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35231440	0.91[EUR][1000 genomes]
rs35343536	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35378468	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35645888	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3735570	1.00[CEU][hapmap]
rs3779472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3823946	0.90[LWK][hapmap];0.90[YRI][hapmap]
rs66610237	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73073391	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs759272	0.81[CEU][hapmap]
rs7778454	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17155705	NEUROD6	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27770000-27778600	Weak transcription	Right Atrium	heart
3	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
4	chr7:27773000-27776000	Enhancers	HepG2	liver
5	chr7:27773600-27778600	Enhancers	Fetal Intestine Large	intestine
6	chr7:27774200-27775800	Enhancers	Liver	Liver
7	chr7:27774200-27775800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:27774600-27776600	Weak transcription	K562	blood
9	chr7:27774600-27776800	Weak transcription	Stomach Mucosa	stomach
10	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
11	chr7:27774800-27775800	Enhancers	Fetal Lung	lung
12	chr7:27774800-27778400	Weak transcription	HUVEC	blood vessel
13	chr7:27775200-27778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27775200-27778400	Weak transcription	Hela-S3	cervix
15	chr7:27775400-27775800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:27775400-27775800	Enhancers	Gastric	stomach
17	chr7:27775600-27775800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr7:27775600-27775800	Genic enhancers	Pancreas	Pancrea
19	chr7:27775600-27775800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:27775600-27775800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:27775600-27778600	Weak transcription	A549	lung

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