Variant report

Variant	rs727544
Chromosome Location	chr7:101580003-101580004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101460014..101461798-chr7:101579155..101581945,2	MCF-7	breast:
2	chr7:101569775..101571277-chr7:101578145..101580741,2	MCF-7	breast:
3	chr7:101565825..101568824-chr7:101578278..101580561,2	MCF-7	breast:
4	chr7:101557512..101560612-chr7:101577165..101580347,3	K562	blood:
5	chr7:101546518..101548364-chr7:101578144..101580587,2	K562	blood:
6	chr7:101572642..101575304-chr7:101578177..101580367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2906649	0.89[ASN][1000 genomes]
rs2906653	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970477	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2970478	0.86[ASN][1000 genomes]
rs2970493	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2970494	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs385854	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs404284	0.81[ASN][1000 genomes]
rs425964	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs427039	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs433736	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs434564	0.82[ASN][1000 genomes]
rs440923	0.81[ASN][1000 genomes]
rs441601	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs441780	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4729764	0.88[ASN][1000 genomes]
rs740302	0.83[ASN][1000 genomes]
rs876826	0.86[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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101561200-101584000	Weak transcription	Hela-S3	cervix
2	chr7:101562000-101583600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:101567000-101596000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:101570200-101597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:101571600-101587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:101575800-101587400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:101576800-101580800	Enhancers	Fetal Intestine Large	intestine
8	chr7:101577200-101580800	Enhancers	Fetal Lung	lung
9	chr7:101577200-101580800	Enhancers	Stomach Mucosa	stomach
10	chr7:101577200-101584000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:101577600-101583600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:101577600-101595600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:101577800-101580400	Enhancers	Gastric	stomach
14	chr7:101577800-101580600	Enhancers	Placenta	Placenta
15	chr7:101577800-101580800	Enhancers	Fetal Muscle Leg	muscle
16	chr7:101578000-101580600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:101578000-101580600	Enhancers	Esophagus	oesophagus
18	chr7:101578000-101583600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:101578200-101580400	Enhancers	Fetal Kidney	kidney
20	chr7:101578200-101580600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:101578200-101612000	Weak transcription	HepG2	liver
22	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:101578400-101580800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:101578600-101580600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:101578600-101580600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr7:101578800-101580400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr7:101578800-101580400	Enhancers	Small Intestine	intestine
28	chr7:101578800-101580600	Enhancers	Aorta	Aorta
29	chr7:101578800-101580600	Enhancers	Brain Substantia Nigra	brain
30	chr7:101578800-101580600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:101578800-101580600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:101578800-101580800	Genic enhancers	Fetal Intestine Small	intestine
33	chr7:101578800-101580800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr7:101579000-101580200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:101579000-101580400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:101579000-101580400	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr7:101579000-101580400	Enhancers	Spleen	Spleen
38	chr7:101579000-101580600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:101579000-101580600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:101579000-101580800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:101579000-101580800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr7:101579000-101581800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:101579200-101580200	Flanking Active TSS	Liver	Liver
44	chr7:101579200-101580200	Flanking Active TSS	Colonic Mucosa	Colon
45	chr7:101579200-101580400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:101579200-101580400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:101579200-101580600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:101579200-101580600	Enhancers	A549	lung
49	chr7:101579400-101580200	Flanking Active TSS	Right Atrium	heart
50	chr7:101579400-101580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links