Variant report

Variant	rs6671658
Chromosome Location	chr1:45355852-45355853
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	chr1:45185573..45188435-chr1:45355678..45358866,3	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10890315	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211049	0.89[AFR][1000 genomes]
rs11211054	1.00[AMR][1000 genomes]
rs11211065	1.00[AMR][1000 genomes]
rs12059608	1.00[AMR][1000 genomes]
rs12063958	1.00[AMR][1000 genomes]
rs12073834	1.00[AMR][1000 genomes]
rs12083931	1.00[AMR][1000 genomes]
rs12084076	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12084731	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087439	1.00[AMR][1000 genomes]
rs12089789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092104	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs12095987	0.83[AFR][1000 genomes]
rs28848532	1.00[AMR][1000 genomes]
rs57180038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58263876	1.00[AMR][1000 genomes]
rs60060850	1.00[AMR][1000 genomes]
rs61027524	1.00[AMR][1000 genomes]
rs61741088	1.00[AMR][1000 genomes]
rs6429551	0.89[AFR][1000 genomes]
rs6671064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671639	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682367	1.00[AMR][1000 genomes]
rs6694697	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs72885257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885293	1.00[AMR][1000 genomes]
rs72887005	1.00[AMR][1000 genomes]
rs72887019	1.00[AMR][1000 genomes]
rs72887047	1.00[AMR][1000 genomes]
rs72887050	1.00[AMR][1000 genomes]
rs7512020	1.00[AMR][1000 genomes]
rs7547844	0.87[AMR][1000 genomes]
rs7555900	1.00[AMR][1000 genomes]
rs9728837	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
3	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
4	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
6	chr1:45334600-45371800	Weak transcription	Gastric	stomach
7	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
8	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
9	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
10	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:45347600-45356400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:45347600-45358800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:45347600-45360400	Weak transcription	HMEC	breast
15	chr1:45347600-45362600	Weak transcription	Lung	lung
16	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:45349000-45357000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:45349600-45358400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:45350600-45360600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:45350600-45361200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:45350800-45363200	Weak transcription	Right Ventricle	heart
24	chr1:45350800-45363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
28	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
29	chr1:45351400-45357800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr1:45351400-45358200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr1:45351800-45357200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr1:45351800-45357200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr1:45351800-45358600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:45352000-45356600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:45352000-45358200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr1:45352200-45356200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:45352200-45356600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr1:45352200-45356600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr1:45352200-45357800	ZNF genes & repeats	Dnd41	blood
40	chr1:45352200-45358200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:45352400-45358200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr1:45352600-45357600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:45352600-45360400	Weak transcription	Ovary	ovary
44	chr1:45353000-45357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:45353000-45357800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:45353000-45374000	Weak transcription	Fetal Heart	heart
47	chr1:45353800-45356400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:45354000-45357200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr1:45354200-45356600	ZNF genes & repeats	Fetal Brain Male	brain
50	chr1:45354200-45357600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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