Variant report

Variant	rs17165580
Chromosome Location	chr7:12151476-12151477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17165563	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17165595	0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4719293	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4721030	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4721037	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73287166	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73289344	0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7778823	1.00[YRI][hapmap]

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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830906	chr7:12001764-12177869	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv887626	chr7:12119520-12151476	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1031893	chr7:12127098-12155796	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12150600-12151800	Active TSS	Colon Smooth Muscle	Colon
2	chr7:12150800-12151600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:12150800-12151600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:12150800-12151600	Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:12150800-12151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12150800-12151600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:12150800-12151600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:12150800-12151800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:12150800-12151800	Active TSS	Brain Angular Gyrus	brain
10	chr7:12150800-12151800	Active TSS	Brain Anterior Caudate	brain
11	chr7:12150800-12151800	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:12150800-12151800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:12150800-12151800	Active TSS	Brain Substantia Nigra	brain
14	chr7:12150800-12152000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:12150800-12152000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:12150800-12152000	Active TSS	Brain Hippocampus Middle	brain
17	chr7:12151000-12151600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:12151000-12151600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:12151000-12151600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:12151000-12151600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:12151000-12151600	Active TSS	Fetal Brain Female	brain
22	chr7:12151000-12151600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr7:12151000-12151600	Active TSS	Ovary	ovary
24	chr7:12151000-12151600	Bivalent/Poised TSS	Right Atrium	heart
25	chr7:12151000-12151600	Weak transcription	A549	lung
26	chr7:12151000-12151600	Active TSS	NHLF	lung
27	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr7:12151000-12151800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:12151000-12151800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:12151000-12151800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:12151000-12151800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:12151000-12151800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:12151000-12151800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr7:12151000-12151800	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr7:12151000-12151800	Active TSS	Fetal Kidney	kidney
44	chr7:12151000-12151800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr7:12151000-12151800	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr7:12151000-12151800	Active TSS	Osteobl	bone
47	chr7:12151000-12152000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr7:12151000-12152000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:12151000-12152000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:12151000-12152000	Active TSS	Rectal Smooth Muscle	rectum

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