Variant report

Variant	rs1771944
Chromosome Location	chr1:247452580-247452581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247452284..247453974-chr1:247456330..247458629,2	K562	blood:
2	chr1:247444095..247447712-chr1:247449743..247453881,5	K562	blood:
3	chr1:247450966..247454008-chr1:247495973..247498678,3	K562	blood:

Variant related genes	Relation type
ENSG00000202079	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1057996	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732300	1.00[ASN][1000 genomes]
rs10924980	1.00[ASN][1000 genomes]
rs10924984	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192835	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192836	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239714	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16846406	0.84[EUR][1000 genomes]
rs1771919	0.84[EUR][1000 genomes]
rs1771923	1.00[CEU][hapmap]
rs1771928	0.84[EUR][1000 genomes]
rs1771945	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771946	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778534	1.00[CEU][hapmap]
rs1778548	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891074	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793288	0.84[EUR][1000 genomes]
rs2799179	1.00[ASN][1000 genomes]
rs4501868	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4925535	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322743	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178323	0.84[EUR][1000 genomes]
rs61276550	0.84[EUR][1000 genomes]
rs6657577	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669714	0.84[EUR][1000 genomes]
rs6671690	0.84[EUR][1000 genomes]
rs6676056	0.84[EUR][1000 genomes]
rs6689651	0.84[EUR][1000 genomes]
rs74152980	0.84[EUR][1000 genomes]
rs74152988	0.84[EUR][1000 genomes]
rs74152993	0.84[EUR][1000 genomes]
rs7517006	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
2	chr1:247445600-247455400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:247449200-247462000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:247449400-247460800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:247449600-247462400	Weak transcription	Brain Angular Gyrus	brain
6	chr1:247449800-247452600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:247450400-247455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:247450600-247454400	Weak transcription	Thymus	Thymus
9	chr1:247451000-247460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:247451600-247460400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:247451800-247452800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:247451800-247452800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:247452200-247453000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:247452200-247453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:247452400-247452600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:247452400-247452600	Enhancers	K562	blood
17	chr1:247452400-247452800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:247452400-247452800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:247452400-247453000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:247452400-247455600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:247452400-247460800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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