Variant report

Variant	rs62291154
Chromosome Location	chr4:3829487-3829488
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
2	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
3	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
4	chr4:3688266..3689130-chr4:3828986..3829489,2	MCF-7	breast:
5	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
6	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
7	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
8	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
9	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
10	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
11	chr4:3829429..3832344-chr4:3838396..3840116,3	K562	blood:

No data

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs28384112	0.85[ASN][1000 genomes]
rs28469774	0.90[ASN][1000 genomes]
rs28574962	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28627984	0.85[ASN][1000 genomes]
rs28674146	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690537	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34007949	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34864987	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34923422	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34943492	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35318892	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35655138	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35854432	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35878833	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924372	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60071327	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60391380	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62291155	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62291156	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62292160	0.81[ASN][1000 genomes]
rs73082738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73082740	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73082742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73082745	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73082748	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
15	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
16	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
17	nsv593473	chr4:3792209-3875234	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv10432	chr4:3825407-3831942	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3823800-3832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:3824400-3831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:3827200-3831400	Enhancers	Liver	Liver
4	chr4:3828200-3830200	Enhancers	Right Ventricle	heart
5	chr4:3828400-3830200	Flanking Active TSS	HepG2	liver
6	chr4:3828400-3833400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:3828600-3829600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:3828600-3829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:3828600-3830200	Enhancers	Lung	lung
10	chr4:3828600-3830200	Enhancers	Ovary	ovary
11	chr4:3828600-3830400	Enhancers	Spleen	Spleen
12	chr4:3828600-3832200	Enhancers	Fetal Brain Male	brain
13	chr4:3828600-3833400	Enhancers	Brain Germinal Matrix	brain
14	chr4:3828600-3833800	Enhancers	Pancreas	Pancrea
15	chr4:3828800-3829800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:3828800-3830600	Enhancers	Fetal Muscle Leg	muscle
17	chr4:3829000-3829600	Enhancers	Brain Anterior Caudate	brain
18	chr4:3829000-3829600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:3829000-3829800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr4:3829000-3830000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:3829000-3830000	Enhancers	Adipose Nuclei	Adipose
22	chr4:3829000-3830000	Enhancers	Left Ventricle	heart
23	chr4:3829000-3830000	Enhancers	Right Atrium	heart
24	chr4:3829000-3830000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr4:3829000-3830200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:3829000-3830400	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:3829200-3829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:3829200-3829600	Bivalent Enhancer	HSMM	muscle
29	chr4:3829200-3829800	Enhancers	Esophagus	oesophagus
30	chr4:3829200-3829800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr4:3829200-3830200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:3829200-3830200	Enhancers	Brain Substantia Nigra	brain
33	chr4:3829200-3830200	Enhancers	Colon Smooth Muscle	Colon
34	chr4:3829400-3829600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:3829400-3829600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr4:3829400-3829600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr4:3829400-3829600	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr4:3829400-3829600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr4:3829400-3829600	Enhancers	NHDF-Ad	bronchial
40	chr4:3829400-3829800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:3829400-3829800	Enhancers	Brain Angular Gyrus	brain
42	chr4:3829400-3829800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:3829400-3829800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr4:3829400-3830000	Enhancers	Brain Cingulate Gyrus	brain
45	chr4:3829400-3830000	Enhancers	Fetal Brain Female	brain
46	chr4:3829400-3830000	Enhancers	Fetal Lung	lung
47	chr4:3829400-3830000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:3829400-3830000	Enhancers	HSMMtube	muscle
49	chr4:3829400-3830200	Bivalent Enhancer	Fetal Stomach	stomach
50	chr4:3829400-3830200	Enhancers	A549	lung

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