Variant report

Variant	rs868612
Chromosome Location	chr1:84762953-84762954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84761188..84763090-chr1:84767502..84769029,2	K562	blood:

Variant related genes	Relation type
ENSG00000203943	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1085093	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12135562	1.00[ASN][1000 genomes]
rs12142220	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1246574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316636	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316641	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316689	1.00[ASN][1000 genomes]
rs72942037	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs784830	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784831	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784833	0.86[CEU][hapmap]
rs813056	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]

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	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84744000-84763200	Weak transcription	Gastric	stomach
2	chr1:84753800-84764000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:84758000-84763800	Weak transcription	NHLF	lung
4	chr1:84760400-84763200	Weak transcription	Fetal Thymus	thymus
5	chr1:84761600-84763600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:84762000-84763000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:84762000-84766000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:84762400-84763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:84762400-84765800	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:84762600-84763000	Enhancers	Small Intestine	intestine
11	chr1:84762600-84763200	Enhancers	Dnd41	blood
12	chr1:84762600-84763400	Enhancers	HUVEC	blood vessel
13	chr1:84762600-84763600	Weak transcription	Fetal Kidney	kidney
14	chr1:84762600-84763600	Enhancers	Stomach Mucosa	stomach
15	chr1:84762600-84765600	Active TSS	Duodenum Mucosa	Duodenum
16	chr1:84762600-84765800	Active TSS	Colonic Mucosa	Colon
17	chr1:84762800-84763000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:84762800-84763400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:84762800-84763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:84762800-84763600	Enhancers	Primary T cells from cord blood	blood
21	chr1:84762800-84763600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:84762800-84763600	Enhancers	Fetal Heart	heart
23	chr1:84762800-84764800	Active TSS	Rectal Mucosa Donor 31	rectum

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