Variant report

Variant	rs685104
Chromosome Location	chr1:84718382-84718383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:
2	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12567002	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs599941	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs655849	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs657603	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1824421	chr1:84704329-84719245	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	esv1812293	chr1:84713610-84719245	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1817156	chr1:84713610-84720376	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1851397	chr1:84713716-84719245	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
5	chr1:84701400-84719800	Weak transcription	HSMM	muscle
6	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:84713400-84718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84713600-84718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:84713600-84718400	Weak transcription	Colonic Mucosa	Colon
10	chr1:84713600-84718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:84713800-84719000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84714000-84719600	Weak transcription	Hela-S3	cervix
13	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:84715600-84718400	Weak transcription	Brain Angular Gyrus	brain
15	chr1:84718000-84720600	Enhancers	NH-A	brain
16	chr1:84718200-84719600	Enhancers	Brain Hippocampus Middle	brain
17	chr1:84718200-84720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:84718200-84720200	Enhancers	NHDF-Ad	bronchial
19	chr1:84718200-84720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:84718200-84720400	Enhancers	HUVEC	blood vessel
21	chr1:84718200-84720600	Enhancers	Osteobl	bone
22	chr1:84718200-84721400	Enhancers	A549	lung
23	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links