Variant report

Variant	rs28384863
Chromosome Location	chr1:171228799-171228800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171219588..171221486-chr1:171228778..171230328,2	K562	blood:
2	chr1:171223210..171225976-chr1:171227419..171229692,2	MCF-7	breast:
3	chr1:171219588..171222803-chr1:171228778..171230564,3	K562	blood:

Variant related genes	Relation type
ENSG00000231424	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12139312	0.83[EUR][1000 genomes]
rs12141357	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12142492	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12144402	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12145368	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28360369	1.00[EUR][1000 genomes]
rs28384856	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36104491	1.00[AFR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171226000-171228800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:171226000-171228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:171226000-171228800	Enhancers	NHEK	skin
4	chr1:171226000-171229200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:171226200-171228800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:171226200-171229200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:171226400-171229200	Enhancers	Ovary	ovary
8	chr1:171226600-171229200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:171226600-171229200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:171226800-171228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:171227200-171229000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:171227400-171229000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:171227600-171228800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:171227600-171229000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:171227800-171229000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:171227800-171230600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:171228000-171228800	Enhancers	Fetal Kidney	kidney
18	chr1:171228000-171229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:171228000-171229200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:171228200-171228800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:171228200-171229000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:171228200-171229200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:171228200-171232600	Weak transcription	Placenta	Placenta
24	chr1:171228200-171232600	Weak transcription	Fetal Stomach	stomach
25	chr1:171228400-171229000	Enhancers	GM12878-XiMat	blood
26	chr1:171228400-171233000	Strong transcription	Fetal Intestine Large	intestine
27	chr1:171228600-171230000	Strong transcription	Fetal Intestine Small	intestine
28	chr1:171228600-171230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:171228600-171232400	Weak transcription	Fetal Lung	lung
30	chr1:171228600-171232800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:171228600-171233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:171228600-171235200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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