Variant report

Variant	rs59147561
Chromosome Location	chr4:3096925-3096926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3074783..3077472-chr4:3096704..3098781,2	K562	blood:
2	chr4:3074783..3077752-chr4:3096120..3098781,2	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction
ENSG00000251075	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10006373	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012793	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17780797	0.91[AFR][1000 genomes]
rs2005787	1.00[ASN][1000 genomes]
rs2071655	0.90[AFR][1000 genomes]
rs2285086	0.92[AFR][1000 genomes]
rs28834148	1.00[ASN][1000 genomes]
rs28867436	0.90[AFR][1000 genomes]
rs363063	0.84[AFR][1000 genomes]
rs363067	1.00[ASN][1000 genomes]
rs363068	1.00[ASN][1000 genomes]
rs363070	1.00[ASN][1000 genomes]
rs363082	1.00[ASN][1000 genomes]
rs363090	0.80[EUR][1000 genomes]
rs363091	0.80[EUR][1000 genomes]
rs363093	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363097	1.00[ASN][1000 genomes]
rs363098	1.00[ASN][1000 genomes]
rs363100	1.00[ASN][1000 genomes]
rs363106	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs363124	0.80[EUR][1000 genomes]
rs363125	0.80[EUR][1000 genomes]
rs363141	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690072	0.84[AFR][1000 genomes]
rs4690073	0.83[AFR][1000 genomes]
rs61792464	1.00[ASN][1000 genomes]
rs6446723	0.89[AFR][1000 genomes]
rs6446724	1.00[ASN][1000 genomes]
rs6446725	1.00[ASN][1000 genomes]
rs6828615	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828882	1.00[ASN][1000 genomes]
rs6834455	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835567	1.00[ASN][1000 genomes]
rs6839081	0.80[EUR][1000 genomes]
rs6839274	1.00[ASN][1000 genomes]
rs6843895	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654034	0.80[EUR][1000 genomes]
rs7663133	1.00[ASN][1000 genomes]
rs7665816	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667354	1.00[ASN][1000 genomes]
rs7682324	1.00[ASN][1000 genomes]
rs7688390	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691627	0.93[AFR][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3078000-3097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:3078000-3097600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:3078000-3101000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:3078000-3103000	Weak transcription	Colonic Mucosa	Colon
5	chr4:3078200-3101000	Weak transcription	Brain Substantia Nigra	brain
6	chr4:3078200-3109800	Weak transcription	Stomach Mucosa	stomach
7	chr4:3078400-3097000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:3078400-3102200	Weak transcription	Hela-S3	cervix
9	chr4:3078400-3107000	Weak transcription	HMEC	breast
10	chr4:3078600-3101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:3078600-3113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:3078800-3108800	Weak transcription	Psoas Muscle	Psoas
13	chr4:3079800-3107200	Weak transcription	Fetal Brain Male	brain
14	chr4:3080000-3117800	Weak transcription	Small Intestine	intestine
15	chr4:3081600-3101000	Weak transcription	Spleen	Spleen
16	chr4:3081800-3101600	Weak transcription	Ovary	ovary
17	chr4:3081800-3101600	Weak transcription	Right Ventricle	heart
18	chr4:3084200-3097200	Weak transcription	NHDF-Ad	bronchial
19	chr4:3084400-3109000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:3084600-3102000	Weak transcription	Gastric	stomach
21	chr4:3084600-3109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:3085600-3107000	Weak transcription	K562	blood
23	chr4:3086800-3098200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:3087200-3101000	Weak transcription	Pancreas	Pancrea
25	chr4:3087400-3101800	Weak transcription	NHEK	skin
26	chr4:3087800-3108800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:3088400-3098800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:3089400-3097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:3089400-3101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:3089600-3100800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:3090000-3100800	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:3090600-3101200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:3090600-3101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:3090800-3097400	Weak transcription	Osteobl	bone
36	chr4:3090800-3097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:3091000-3099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:3091000-3100800	Weak transcription	HUVEC	blood vessel
39	chr4:3091000-3101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:3091000-3101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:3092000-3097200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:3092400-3097000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:3092400-3097600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:3092400-3101800	Weak transcription	NH-A	brain
45	chr4:3092400-3108200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:3092600-3098800	Strong transcription	Fetal Stomach	stomach
47	chr4:3093000-3101600	Weak transcription	NHLF	lung
48	chr4:3093400-3108800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:3093600-3109200	Weak transcription	Fetal Heart	heart
50	chr4:3093800-3097200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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