Variant report

Variant	rs73304284
Chromosome Location	chr7:3794985-3794986
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	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
2	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1004142	1.00[AMR][1000 genomes]
rs10226577	1.00[AMR][1000 genomes]
rs10233941	1.00[AMR][1000 genomes]
rs10264350	1.00[AMR][1000 genomes]
rs10277000	1.00[AMR][1000 genomes]
rs10279770	1.00[AMR][1000 genomes]
rs10279868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113851	1.00[EUR][1000 genomes]
rs2214843	1.00[EUR][1000 genomes]
rs28379281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28650199	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41883	1.00[EUR][1000 genomes]
rs41885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41887	1.00[EUR][1000 genomes]
rs41888	1.00[EUR][1000 genomes]
rs41895	1.00[EUR][1000 genomes]
rs41896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41897	1.00[EUR][1000 genomes]
rs42233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194378	1.00[EUR][1000 genomes]
rs6462287	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6462288	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6949215	1.00[EUR][1000 genomes]
rs6951452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967027	0.87[AMR][1000 genomes]
rs6970269	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975953	0.89[AFR][1000 genomes]
rs73304253	0.87[AMR][1000 genomes]
rs73306103	0.89[AMR][1000 genomes]
rs7791672	1.00[AMR][1000 genomes]
rs7805255	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017868	chr7:3698885-3820159	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1021443	chr7:3705273-3889334	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv605935	chr7:3713194-3799580	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1019582	chr7:3718061-3814514	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv538682	chr7:3718061-3814514	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1022650	chr7:3723035-3847680	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1024704	chr7:3736254-3831859	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1031610	chr7:3744536-3838844	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1031999	chr7:3782751-3847680	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv538683	chr7:3782751-3847680	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2756505	chr7:3789992-3856544	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv605937	chr7:3792038-3836379	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv605938	chr7:3792038-3852261	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1024292	chr7:3792949-3838578	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3344548	chr7:3793426-3797924	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3780200-3795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3782600-3800200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3792800-3801800	Weak transcription	Gastric	stomach
5	chr7:3793000-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:3793000-3795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:3793200-3795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:3793200-3795000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:3793200-3795000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:3793200-3795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:3793400-3796600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:3793600-3795000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:3793600-3795000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:3793600-3795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:3793800-3795000	Enhancers	Fetal Brain Male	brain
16	chr7:3794000-3795000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:3794000-3795000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:3794000-3795200	Active TSS	Brain Anterior Caudate	brain
19	chr7:3794000-3795200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:3794200-3795000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:3794200-3795000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:3794200-3795000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:3794200-3795000	Enhancers	Fetal Muscle Leg	muscle
24	chr7:3794200-3795200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr7:3794200-3795200	Active TSS	Brain Hippocampus Middle	brain
26	chr7:3794200-3795200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:3794200-3795200	Enhancers	Fetal Stomach	stomach
28	chr7:3794200-3795200	Flanking Active TSS	NH-A	brain
29	chr7:3794200-3795200	Active TSS	Osteobl	bone
30	chr7:3794400-3795000	Flanking Active TSS	Fetal Brain Female	brain
31	chr7:3794400-3795200	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:3794400-3795400	Active TSS	Brain Substantia Nigra	brain
33	chr7:3794400-3801800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:3794600-3795000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:3794600-3795000	Active TSS	Adipose Nuclei	Adipose
36	chr7:3794600-3795200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:3794600-3795200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:3794600-3795200	Enhancers	Stomach Mucosa	stomach
39	chr7:3794600-3795200	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:3794800-3795000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:3794800-3795000	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr7:3794800-3795000	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr7:3794800-3795000	Flanking Active TSS	Fetal Lung	lung
44	chr7:3794800-3795200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:3794800-3795200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:3794800-3795400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:3794800-3795600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:3794800-3799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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