Variant report

Variant	rs71644707
Chromosome Location	chr1:222992893-222992894
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222987657..222990289-chr1:222992813..222995460,3	MCF-7	breast:
2	chr1:222991311..222993409-chr1:222996099..222997727,2	MCF-7	breast:
3	chr1:222986543..222989514-chr1:222992285..222994784,2	K562	blood:
4	chr1:222638388..222640436-chr1:222991822..222993903,2	K562	blood:

Variant related genes	Relation type
ENSG00000154309	Chromatin interaction
ENSG00000228106	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11485186	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11486081	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34331188	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35264472	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35970216	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36054388	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989000-222999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:222989200-222993000	Weak transcription	Fetal Thymus	thymus
3	chr1:222989200-222994000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:222989200-222997600	Weak transcription	Fetal Brain Male	brain
5	chr1:222989200-222999000	Weak transcription	Lung	lung
6	chr1:222989400-222993800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:222989400-222996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:222989400-222999000	Weak transcription	Stomach Mucosa	stomach
9	chr1:222989400-223002800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:222990200-222993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:222990200-222997000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:222990400-222997600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:222990800-222995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:222991000-222996000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:222991000-222996600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:222991000-222998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:222991200-222996000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:222991200-223010200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:222991400-222996800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:222991600-222997800	Weak transcription	A549	lung
23	chr1:222991600-222998000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:222991800-222993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:222991800-222993800	Weak transcription	NHLF	lung
26	chr1:222991800-222997600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:222991800-223001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:222991800-223003200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
30	chr1:222992000-222993200	Weak transcription	NHDF-Ad	bronchial
31	chr1:222992000-222997400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:222992000-222997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:222992000-222997800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:222992000-222998000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:222992200-222993200	Weak transcription	NHEK	skin
36	chr1:222992200-222993600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:222992200-222993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:222992200-222993600	Weak transcription	HMEC	breast
39	chr1:222992200-222993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:222992200-222995800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:222992400-222993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:222992400-222993400	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:222992400-222993600	Weak transcription	Osteobl	bone
44	chr1:222992400-222993800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:222992400-222995200	Weak transcription	Hela-S3	cervix
46	chr1:222992400-222998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:222992600-222998000	Weak transcription	Fetal Lung	lung

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