Variant report

Variant	rs6856469
Chromosome Location	chr4:48396336-48396337
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	chr4:48396297..48398008-chr4:48407103..48408976,2	MCF-7	breast:
2	chr4:48394765..48396984-chr4:48398228..48399925,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11931685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945332	1.00[AMR][1000 genomes]
rs11946788	1.00[AMR][1000 genomes]
rs28692953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34304088	1.00[AMR][1000 genomes]
rs6822588	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823580	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
3	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
4	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
5	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:48378200-48398400	Weak transcription	A549	lung
8	chr4:48378400-48405000	Weak transcription	Gastric	stomach
9	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
10	chr4:48379600-48400200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:48380000-48399200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr4:48381400-48405000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:48381600-48405000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:48382200-48398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:48383000-48397200	Strong transcription	Fetal Thymus	thymus
17	chr4:48383000-48398400	Weak transcription	Fetal Brain Female	brain
18	chr4:48383000-48405200	Weak transcription	Spleen	Spleen
19	chr4:48383200-48397000	Weak transcription	HUVEC	blood vessel
20	chr4:48383200-48398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:48383200-48412000	Weak transcription	Fetal Brain Male	brain
22	chr4:48383600-48398600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:48383800-48397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:48383800-48398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:48384200-48403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:48385000-48404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:48385200-48398600	Weak transcription	Brain Angular Gyrus	brain
28	chr4:48385200-48405000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:48385200-48405000	Weak transcription	Lung	lung
30	chr4:48385200-48405400	Weak transcription	Pancreas	Pancrea
31	chr4:48385400-48422000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:48386000-48399000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:48387000-48422200	Weak transcription	Colonic Mucosa	Colon
34	chr4:48387400-48398000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:48387600-48398600	Weak transcription	Fetal Kidney	kidney
37	chr4:48387600-48401000	Weak transcription	HMEC	breast
38	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:48388000-48404400	Weak transcription	HepG2	liver
41	chr4:48388000-48405200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:48388200-48398600	Weak transcription	Brain Germinal Matrix	brain
43	chr4:48388200-48405400	Weak transcription	NHEK	skin
44	chr4:48388400-48401200	Weak transcription	K562	blood
45	chr4:48389600-48400000	Strong transcription	Primary B cells from cord blood	blood
46	chr4:48389800-48399200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:48390400-48396400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:48390600-48400400	Strong transcription	Placenta	Placenta
49	chr4:48390800-48398800	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:48390800-48400200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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