Variant report

Variant	rs4729771
Chromosome Location	chr7:101715887-101715888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101458190..101460276-chr7:101714926..101717278,2	MCF-7	breast:
2	chr7:101715723..101719126-chr7:101720326..101723914,4	K562	blood:
3	chr7:101714618..101716538-chr7:101724031..101725533,2	K562	blood:
4	chr7:101714618..101716441-chr7:101723476..101725531,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs365397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376183	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs377587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411844	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
2	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:101708200-101722000	Weak transcription	NH-A	brain
6	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
8	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:101708400-101720400	Weak transcription	HMEC	breast
10	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
12	chr7:101708400-101726000	Weak transcription	NHEK	skin
13	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
14	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:101711800-101717000	Strong transcription	HepG2	liver
16	chr7:101712000-101716000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:101712000-101716000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:101712000-101718000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:101712000-101719600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:101712200-101716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:101712400-101718800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:101712800-101719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:101712800-101721800	Weak transcription	Fetal Heart	heart
24	chr7:101713000-101716400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr7:101713200-101716000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:101713600-101716000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:101713600-101716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:101713800-101716000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:101714000-101716400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:101714000-101717000	Weak transcription	Stomach Mucosa	stomach
31	chr7:101714000-101720400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:101714200-101721800	Weak transcription	Hela-S3	cervix
33	chr7:101714400-101716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:101714400-101716200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr7:101714800-101716000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:101714800-101716000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:101714800-101716000	ZNF genes & repeats	NHLF	lung
38	chr7:101714800-101716200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:101714800-101716200	Strong transcription	Lung	lung
40	chr7:101714800-101718800	Strong transcription	Primary B cells from cord blood	blood
41	chr7:101715000-101722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:101715200-101716200	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr7:101715200-101717400	Weak transcription	Esophagus	oesophagus
44	chr7:101715200-101717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:101715200-101718000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:101715200-101719200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:101715200-101720000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:101715200-101723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:101715200-101723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:101715200-101723200	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links