Variant report

Variant	rs57676508
Chromosome Location	chr4:48407673-48407674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48397215..48399762-chr4:48405832..48408129,2	K562	blood:
2	chr4:48396297..48398008-chr4:48407103..48408976,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10517225	0.86[EUR][1000 genomes]
rs11932126	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134960	0.86[EUR][1000 genomes]
rs1565218	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861344	0.86[EUR][1000 genomes]
rs16861347	0.86[EUR][1000 genomes]
rs17609521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609556	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609614	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.86[EUR][1000 genomes]
rs17609761	0.86[EUR][1000 genomes]
rs17655725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655741	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.86[EUR][1000 genomes]
rs4695378	0.95[EUR][1000 genomes]
rs55730515	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986500	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56932035	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244627	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707818	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891069	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847014	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73814762	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814763	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814782	0.86[EUR][1000 genomes]
rs7693468	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	nsv528084	chr4:48387851-48413919	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
3	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:48383200-48412000	Weak transcription	Fetal Brain Male	brain
7	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
9	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:48391000-48412600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:48391200-48423200	Weak transcription	NHLF	lung
15	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
17	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:48396200-48422000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:48396400-48412400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
21	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
22	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood
23	chr4:48399000-48422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:48399000-48423800	Weak transcription	NH-A	brain
25	chr4:48399000-48423800	Weak transcription	NHDF-Ad	bronchial
26	chr4:48399200-48412600	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:48399200-48412600	Weak transcription	HSMMtube	muscle
28	chr4:48399200-48422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:48399200-48426000	Weak transcription	A549	lung
30	chr4:48399400-48412600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:48399800-48410800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:48399800-48424400	Weak transcription	Brain Anterior Caudate	brain
33	chr4:48400000-48412600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
35	chr4:48400200-48412600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:48400200-48412600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:48400200-48412800	Weak transcription	Fetal Kidney	kidney
38	chr4:48400200-48423200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:48400200-48426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:48400400-48407800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:48400400-48410000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:48400400-48412000	Weak transcription	HSMM	muscle
43	chr4:48404200-48413000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:48404600-48412600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:48404600-48421800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:48404800-48423600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:48405200-48408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:48405200-48412400	Weak transcription	HepG2	liver
49	chr4:48405200-48412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:48405400-48412000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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