Variant report

Variant	rs6823599
Chromosome Location	chr4:3785441-3785442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3774394..3778170-chr4:3784395..3787889,4	MCF-7	breast:
2	chr4:3784436..3787283-chr4:3790083..3791949,2	MCF-7	breast:
3	chr4:3771642..3772558-chr4:3785244..3785866,2	MCF-7	breast:
4	chr4:3769000..3769555-chr4:3785283..3786137,2	MCF-7	breast:
5	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
6	chr4:3767709..3769984-chr4:3783485..3785822,2	K562	blood:
7	chr4:3767665..3768566-chr4:3785108..3786011,4	MCF-7	breast:
8	chr4:3533743..3535319-chr4:3783998..3786670,2	MCF-7	breast:
9	chr4:3784876..3787026-chr4:3792827..3794730,2	K562	blood:
10	chr4:3749442..3749991-chr4:3785209..3785794,2	MCF-7	breast:
11	chr4:3785291..3787678-chr4:3788137..3789890,2	MCF-7	breast:
12	chr14:41952601..41955142-chr4:3784821..3786920,2	MCF-7	breast:
13	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
14	chr4:3784430..3786032-chr4:3804329..3807090,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184160	Chromatin interaction
ENSG00000163956	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16844858	1.00[EUR][1000 genomes]
rs28698639	1.00[EUR][1000 genomes]
rs3936101	1.00[AMR][1000 genomes]
rs55658541	1.00[EUR][1000 genomes]
rs59728387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59891613	1.00[EUR][1000 genomes]
rs59984839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60823736	1.00[EUR][1000 genomes]
rs61169848	1.00[EUR][1000 genomes]
rs73078621	1.00[EUR][1000 genomes]
rs73078649	1.00[EUR][1000 genomes]
rs73080617	1.00[EUR][1000 genomes]
rs73080619	1.00[EUR][1000 genomes]
rs73080645	1.00[EUR][1000 genomes]
rs73080659	1.00[EUR][1000 genomes]
rs73080660	1.00[EUR][1000 genomes]
rs73080673	1.00[EUR][1000 genomes]
rs73080679	1.00[EUR][1000 genomes]
rs73080681	1.00[EUR][1000 genomes]
rs73792652	1.00[EUR][1000 genomes]
rs9684992	1.00[EUR][1000 genomes]
rs9761424	1.00[EUR][1000 genomes]
rs9761431	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1000383	chr4:3412585-3839781	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv878471	chr4:3413209-3884998	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv1816543	chr4:3414654-3942867	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1011554	chr4:3436478-3975772	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537002	chr4:3436478-3975772	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1012371	chr4:3450810-3878976	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv537003	chr4:3450810-3878976	Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv998670	chr4:3453787-3909535	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv432549	chr4:3487321-3975048	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1002558	chr4:3505290-3878976	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv878497	chr4:3584373-3792209	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv878501	chr4:3606875-3788647	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv878506	chr4:3721299-3792209	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv1011478	chr4:3726497-3800383	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv878507	chr4:3737883-3866157	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv878508	chr4:3737883-3884998	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv997647	chr4:3752797-3827015	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv878509	chr4:3754366-3845104	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv869584	chr4:3759068-3791709	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv433432	chr4:3780072-3792442	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3782600-3786400	Weak transcription	Hela-S3	cervix
2	chr4:3783000-3787600	Weak transcription	A549	lung
3	chr4:3783000-3793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:3783400-3786600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:3783400-3787000	Flanking Active TSS	HepG2	liver
6	chr4:3783600-3786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:3783800-3786600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:3784000-3785800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:3784800-3787200	Enhancers	Placenta	Placenta
10	chr4:3785000-3788600	Enhancers	Pancreas	Pancrea
11	chr4:3785200-3786200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:3785200-3786200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:3785200-3787000	Enhancers	Fetal Intestine Small	intestine
14	chr4:3785200-3788800	Enhancers	Liver	Liver
15	chr4:3785200-3788800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:3785200-3790000	Enhancers	Brain Germinal Matrix	brain
17	chr4:3785400-3785600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:3785400-3786000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:3785400-3786000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:3785400-3786000	Enhancers	Fetal Brain Male	brain
21	chr4:3785400-3786600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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