Variant report

Variant	rs4615643
Chromosome Location	chr9:72001798-72001799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
2	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
3	chr8:128880231..128883034-chr9:72000789..72002321,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135063	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10453246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17064047	1.00[AMR][1000 genomes]
rs56955534	1.00[AMR][1000 genomes]
rs58518144	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6559503	1.00[AMR][1000 genomes]
rs7020046	1.00[AMR][1000 genomes]
rs7049191	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459109	1.00[AMR][1000 genomes]
rs73459125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7857199	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
3	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:71986600-72002600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:71989000-72002800	Weak transcription	Brain Substantia Nigra	brain
6	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:71992000-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:71992200-72001800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:71992400-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:71992600-72006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:71992600-72006600	Weak transcription	Esophagus	oesophagus
13	chr9:71993000-72006600	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:71994400-72006800	Weak transcription	Spleen	Spleen
15	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
16	chr9:71996200-72001800	Weak transcription	Left Ventricle	heart
17	chr9:71996600-72002000	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:71996600-72004200	Weak transcription	Right Atrium	heart
19	chr9:71997200-72001800	Weak transcription	Psoas Muscle	Psoas
20	chr9:71997200-72005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:71997200-72006600	Weak transcription	HSMMtube	muscle
22	chr9:71997400-72001800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:71997400-72002000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:71997400-72007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:71997400-72009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71997600-72006200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:71997600-72006600	Weak transcription	Fetal Lung	lung
28	chr9:71998200-72005400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:71998400-72003600	Strong transcription	Fetal Stomach	stomach
30	chr9:71998600-72003000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:71999000-72001800	Weak transcription	Gastric	stomach
32	chr9:71999400-72002000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:72000000-72005000	Strong transcription	Ovary	ovary
34	chr9:72000200-72001800	Weak transcription	Right Ventricle	heart
35	chr9:72000200-72003600	Strong transcription	Fetal Muscle Leg	muscle
36	chr9:72000200-72004800	Enhancers	Pancreas	Pancrea
37	chr9:72000200-72005000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr9:72000600-72006600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:72000800-72003200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr9:72000800-72003400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr9:72001000-72002000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:72001000-72002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:72001000-72002800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:72001000-72003400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:72001000-72006600	Weak transcription	Lung	lung
46	chr9:72001400-72003800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr9:72001600-72001800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:72001600-72002400	Enhancers	Fetal Heart	heart
49	chr9:72001600-72003400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:72001600-72003600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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