Variant report

Variant	rs16849609
Chromosome Location	chr1:176128563-176128564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176118719..176121398-chr1:176126586..176128691,2	MCF-7	breast:
2	chr1:176117831..176119910-chr1:176126935..176128982,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10494499	0.87[AFR][1000 genomes]
rs12402588	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403164	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12403794	0.81[AFR][1000 genomes]
rs12407451	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408191	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12408512	0.84[EUR][1000 genomes]
rs12409154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411139	0.84[EUR][1000 genomes]
rs17351760	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17351774	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17351933	0.81[AFR][1000 genomes]
rs17352072	0.81[AFR][1000 genomes]
rs17354043	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17354252	0.82[AFR][1000 genomes]
rs4265393	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4292913	0.81[AMR][1000 genomes]
rs4497165	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4498761	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55779970	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55815340	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56346636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729493	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58539711	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59540069	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59801736	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60630667	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820933	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61820935	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820936	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820954	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820963	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820964	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820966	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820969	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820971	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820976	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821005	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821006	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821007	0.81[AFR][1000 genomes]
rs61821009	0.81[AFR][1000 genomes]
rs61821032	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821033	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821035	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821055	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61821058	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821059	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822660	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822661	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822662	0.81[AFR][1000 genomes]
rs61822663	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822765	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822766	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822768	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74127162	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74127185	0.81[AFR][1000 genomes]
rs7553673	0.91[AMR][1000 genomes];0.98[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176054400-176131600	Weak transcription	NH-A	brain
2	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
3	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
4	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
6	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
7	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:176085400-176142400	Weak transcription	Lung	lung
9	chr1:176085600-176128600	Weak transcription	Placenta	Placenta
10	chr1:176095600-176130200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:176096000-176138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
13	chr1:176102800-176130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:176102800-176130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:176108600-176129800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:176110600-176164000	Weak transcription	NHLF	lung
17	chr1:176111800-176139400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:176115800-176129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:176116000-176146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:176121200-176130800	Weak transcription	HepG2	liver
21	chr1:176122000-176130200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:176122000-176139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:176123200-176130600	Weak transcription	Thymus	Thymus
24	chr1:176123800-176129000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:176123800-176131200	Weak transcription	K562	blood
26	chr1:176123800-176139800	Weak transcription	Fetal Kidney	kidney
27	chr1:176123800-176144200	Weak transcription	Left Ventricle	heart
28	chr1:176123800-176150000	Weak transcription	Osteobl	bone
29	chr1:176125200-176128600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr1:176125200-176131000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:176126000-176129000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:176126000-176129000	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr1:176126000-176130400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:176126000-176132000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:176126200-176128600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:176126400-176128600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr1:176126400-176128600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:176126400-176128600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr1:176126400-176129000	ZNF genes & repeats	Dnd41	blood
40	chr1:176126400-176129400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:176126400-176129400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr1:176126400-176129800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:176126400-176130000	Weak transcription	Fetal Stomach	stomach
44	chr1:176126400-176130200	ZNF genes & repeats	GM12878-XiMat	blood
45	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
46	chr1:176126600-176128600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr1:176126600-176128600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr1:176126600-176128600	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr1:176126600-176128600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:176126600-176129200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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